Mosaicism of peripheral blood lymphocyte populations in females heterozygous for the Lesch-Nyhan mutation (Q47852272)

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scientific article published in May 1974

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Language	Label	Description	Also known as
English	Mosaicism of peripheral blood lymphocyte populations in females heterozygous for the Lesch-Nyhan mutation	scientific article published in May 1974

Statements

instance of

scholarly article

1 reference

stated in

Europe PubMed Central

PubMed publication ID

4842648

retrieved

6 February 2018

reference URL

http://europepmc.org/abstract/MED/4842648

title

Mosaicism of peripheral blood lymphocyte populations in females heterozygous for the Lesch-Nyhan mutation (English)

1 reference

stated in

Europe PubMed Central

PubMed publication ID

4842648

retrieved

6 February 2018

reference URL

http://europepmc.org/abstract/MED/4842648

main subject

Lesch-Nyhan syndrome

0 references

heterozygosity

1 reference

based on heuristic

inferred from title

author name string

R J Albertini

series ordinal

1

1 reference

stated in

Europe PubMed Central

PubMed publication ID

4842648

retrieved

6 February 2018

reference URL

http://europepmc.org/abstract/MED/4842648

R DeMars

series ordinal

2

1 reference

stated in

Europe PubMed Central

PubMed publication ID

4842648

retrieved

6 February 2018

reference URL

http://europepmc.org/abstract/MED/4842648

publication date

1 May 1974

1 reference

stated in

Europe PubMed Central

PubMed publication ID

4842648

retrieved

6 February 2018

reference URL

http://europepmc.org/abstract/MED/4842648

published in

Biochemical Genetics

1 reference

stated in

Europe PubMed Central

PubMed publication ID

4842648

retrieved

6 February 2018

reference URL

http://europepmc.org/abstract/MED/4842648

volume

11

1 reference

stated in

Europe PubMed Central

PubMed publication ID

4842648

retrieved

6 February 2018

reference URL

http://europepmc.org/abstract/MED/4842648

issue

5

1 reference

stated in

Europe PubMed Central

PubMed publication ID

4842648

retrieved

6 February 2018

reference URL

http://europepmc.org/abstract/MED/4842648

page(s)

397-411

1 reference

stated in

Europe PubMed Central

PubMed publication ID

4842648

retrieved

6 February 2018

reference URL

http://europepmc.org/abstract/MED/4842648

cites work

The spontaneous azaguanine-resistant mutants of diploid human fibroblasts.

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/4842648

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12 December 2020

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inferred from PubMed ID database lookup

X-Linked Recessive Inheritance of a Syndrome of Mental Retardation With Hyperuricemia

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/4842648

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12 December 2020

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SEPARATION OF LYMPHOCYTES, POLYMORPHONUCLEAR LEUKOCYTES AND MONOCYTES ON GLASS COLUMNS, INCLUDING TISSUE CULTURE OBSERVATIONS

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/4842648

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12 December 2020

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inferred from PubMed ID database lookup

An improved nutrient solution for diploid Chinese hamster and human cell lines

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/4842648

retrieved

12 December 2020

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inferred from PubMed ID database lookup

Somatic cell mutation detection and quantification of X-ray-induced mutation in cultured, diploid human fibroblasts

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/4842648

retrieved

12 December 2020

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inferred from PubMed ID database lookup

Isoenzymes of hypoxanthine-guanine-phosphoribosyl transferase in a family with partial deficiency of the enzyme

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/4842648

retrieved

12 December 2020

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inferred from PubMed ID database lookup

An enzymatic basis for variation in response to allopurinol. Hypoxanthine-guanine phosphoribosyltransferase deficiency

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/4842648

retrieved

12 December 2020

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inferred from PubMed ID database lookup

Lesch-Nyhan syndrome: absence of the mutant enzyme in erythrocytes of a heterozygote for both normal and mutant hypoxanthine-guanine phosphoribosyl transferase.

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/4842648

retrieved

12 December 2020

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inferred from PubMed ID database lookup

Inheritance of purine phosphoribosyltransferases in man

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/4842648

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12 December 2020

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inferred from PubMed ID database lookup

Hypoxanthine-guanine phosphoribosyltransferase deficiency: activity in normal, mutant, and heterozygote-cultured human skin fibroblasts

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/4842648

retrieved

12 December 2020

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inferred from PubMed ID database lookup

Studies on the quantitation of lymphocyte response in vitro

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/4842648

retrieved

12 December 2020

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inferred from PubMed ID database lookup

Single-allele expression at an X-linked hyperuricemia locus in heterozygous human cells

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/4842648

retrieved

12 December 2020

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inferred from PubMed ID database lookup

Genetic studies of HG- PRT deficiency and the Lesch-Nyhan syndrome with cultured human cells

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/4842648

retrieved

12 December 2020

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inferred from PubMed ID database lookup

X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: heterozygote has two clonal populations

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/4842648

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of females heterozygous for the Lesch-Nyhan mutation by 8-azaguanine-resistant growth of cultured fibroblasts

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/4842648

retrieved

12 December 2020

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inferred from PubMed ID database lookup

Cell population density and phenotypic expression of tissue culture fibroblasts from heterozygotes of Lesch-Nyhan's disease (inosinate pyrophosphorylase deficiency)

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/4842648

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12 December 2020

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inferred from PubMed ID database lookup

Mutations of Bacteria from Virus Sensitivity to Virus Resistance

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/4842648

retrieved

12 December 2020

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inferred from PubMed ID database lookup

A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION

1 reference

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/4842648

retrieved

12 December 2020

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inferred from PubMed ID database lookup

Hypoxanthine-guanine phosphoribosyltransferase deficiency: chemical agents selective for mutant or normal cultured fibroblasts in mixed and heterozygote cultures

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/4842648

retrieved

12 December 2020

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inferred from PubMed ID database lookup

Diploid Azaguanine-Resistant Mutants of Cultured Human Fibroblasts

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/4842648

retrieved

12 December 2020

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inferred from PubMed ID database lookup

Seminars on Lesch-Nyhan syndrome. Aspects of purine metabolism.

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/4842648

retrieved

12 December 2020

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inferred from PubMed ID database lookup

Absence of mosaicism in the lymphocyte in X-linked congenital hyperuricosuria

1 reference

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/4842648

retrieved

12 December 2020

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inferred from PubMed ID database lookup

Lesch-Nyhan syndrome. Summary of clinical features

1 reference

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/4842648

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expression of two X-linked genes in human hair follicles of double heterozygotes

1 reference

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/4842648

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12 December 2020

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inferred from PubMed ID database lookup

Mammalian X-chromosome action: inactivation limited in spread and region of origin

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/4842648

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12 December 2020

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inferred from PubMed ID database lookup

PURINE NUCLEOTIDE PYROPHOSPHORYLASES IN 6-MERCAPTOPURINE-SENSITIVE AND -RESISTANT HUMAN LEUKEMIAS

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/4842648

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Purine metabolism in heterozygous carriers of hypoxanthine-guanine phosphoribosyltransferase deficiency

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/4842648

retrieved

12 December 2020

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inferred from PubMed ID database lookup

Gene action in the X-chromosome of the mouse (Mus musculus L.)

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/4842648

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12 December 2020

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inferred from PubMed ID database lookup

Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Gout

1 reference

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PubMed

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https://pubmed.ncbi.nlm.nih.gov/4842648

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12 December 2020

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inferred from PubMed ID database lookup

Enzyme Defect Associated with a Sex-Linked Human Neurological Disorder and Excessive Purine Synthesis

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/4842648

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan syndrome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/4842648

retrieved

12 December 2020

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inferred from PubMed ID database lookup

Clinical features of the Lesch-Nyhan syndrome. Introduction--clinical and genetic features

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/4842648

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hypoxanthine-guanine phosphoribosyltransferase deficiency in the Lesch-Nyhan syndrome and gout

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/4842648

retrieved

12 December 2020

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Identifiers

DOI

10.1007/BF00486413

1 reference

stated in

Europe PubMed Central

PubMed publication ID

4842648

retrieved

6 February 2018

reference URL

http://europepmc.org/abstract/MED/4842648

PubMed publication ID

4842648

1 reference

stated in

Europe PubMed Central

PubMed publication ID

4842648

retrieved

6 February 2018

reference URL

http://europepmc.org/abstract/MED/4842648

ResearchGate publication ID

18325327

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