Association of hyperprolinaemia type I and heparin cofactor II deficiency with CATCH 22 syndrome: evidence for a contiguous gene syndrome locating the proline oxidase gene. (Q54630944)

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English	Association of hyperprolinaemia type I and heparin cofactor II deficiency with CATCH 22 syndrome: evidence for a contiguous gene syndrome locating the proline oxidase gene.	scientific article

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scholarly article

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Europe PubMed Central

PubMed publication ID

8803768

retrieved

1 June 2018

reference URL

http://europepmc.org/abstract/MED/8803768

title

Association of hyperprolinaemia type I and heparin cofactor II deficiency with CATCH 22 syndrome: evidence for a contiguous gene syndrome locating the proline oxidase gene. (English)

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8803768

retrieved

1 June 2018

reference URL

http://europepmc.org/abstract/MED/8803768

main subject

Contiguous gene syndrome

1 reference

based on heuristic

inferred from title

heparin

1 reference

based on heuristic

inferred from title

heparin cofactor 2 deficiency

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based on heuristic

inferred from title

author name string

J Jaeken

series ordinal

1

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8803768

retrieved

1 June 2018

reference URL

http://europepmc.org/abstract/MED/8803768

N Goemans

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2

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Europe PubMed Central

PubMed publication ID

8803768

retrieved

1 June 2018

reference URL

http://europepmc.org/abstract/MED/8803768

J P Fryns

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3

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Europe PubMed Central

PubMed publication ID

8803768

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1 June 2018

reference URL

http://europepmc.org/abstract/MED/8803768

I François

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4

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Europe PubMed Central

PubMed publication ID

8803768

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1 June 2018

reference URL

http://europepmc.org/abstract/MED/8803768

F de Zegher

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5

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stated in

Europe PubMed Central

PubMed publication ID

8803768

retrieved

1 June 2018

reference URL

http://europepmc.org/abstract/MED/8803768

publication date

1 January 1996

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Europe PubMed Central

PubMed publication ID

8803768

retrieved

1 June 2018

reference URL

http://europepmc.org/abstract/MED/8803768

published in

Journal of Inherited Metabolic Disease

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stated in

Europe PubMed Central

PubMed publication ID

8803768

retrieved

1 June 2018

reference URL

http://europepmc.org/abstract/MED/8803768

volume

19

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stated in

Europe PubMed Central

PubMed publication ID

8803768

retrieved

1 June 2018

reference URL

http://europepmc.org/abstract/MED/8803768

issue

3

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stated in

Europe PubMed Central

PubMed publication ID

8803768

retrieved

1 June 2018

reference URL

http://europepmc.org/abstract/MED/8803768

page(s)

275-277

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Europe PubMed Central

PubMed publication ID

8803768

retrieved

1 June 2018

reference URL

http://europepmc.org/abstract/MED/8803768

cites work

Organization of the human immunoglobulin lambda light-chain locus on chromosome 22q11.2.

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8803768

retrieved

12 December 2020

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inferred from PubMed ID database lookup

Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion.

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8803768

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8803768

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DiGeorge syndrome and related syndromes associated with 22q11.2 deletions. A review.

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8803768

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complete nucleotide sequence of the gene for human heparin cofactor II and mapping to chromosomal band 22q11

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8803768

retrieved

12 December 2020

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inferred from PubMed ID database lookup

Identifiers

DOI

10.1007/BF01799254

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8803768

retrieved

1 June 2018

reference URL

http://europepmc.org/abstract/MED/8803768

PubMed publication ID

8803768

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8803768

retrieved

1 June 2018

reference URL

http://europepmc.org/abstract/MED/8803768

 

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