Exclusion of the cartilage link protein and the cartilage matrix protein genes as the mutant loci in several heritable chondrodysplasias (Q34327477)

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English	Exclusion of the cartilage link protein and the cartilage matrix protein genes as the mutant loci in several heritable chondrodysplasias	scientific article

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scholarly article

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Europe PubMed Central

PubMed publication ID

7989046

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1 August 2017

title

Exclusion of the cartilage link protein and the cartilage matrix protein genes as the mutant loci in several heritable chondrodysplasias (English)

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Europe PubMed Central

PubMed publication ID

7989046

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1 August 2017

main subject

cartilage

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inferred from title

author name string

Loughlin J

series ordinal

1

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Europe PubMed Central

PubMed publication ID

7989046

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1 August 2017

Irven C

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2

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Europe PubMed Central

PubMed publication ID

7989046

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1 August 2017

Sykes B

series ordinal

3

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Europe PubMed Central

PubMed publication ID

7989046

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1 August 2017

language of work or name

English

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publication date

1 December 1994

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Europe PubMed Central

PubMed publication ID

7989046

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1 August 2017

published in

Human Genetics

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Europe PubMed Central

PubMed publication ID

7989046

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1 August 2017

volume

94

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Europe PubMed Central

PubMed publication ID

7989046

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1 August 2017

issue

6

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Europe PubMed Central

PubMed publication ID

7989046

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1 August 2017

page(s)

698-700

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Europe PubMed Central

PubMed publication ID

7989046

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1 August 2017

cites work

Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the alpha 1(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7989046

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complete amino acid sequence of human cartilage link protein (CRTL1) deduced from cDNA clones and chromosomal assignment of the gene

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7989046

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of a mutation in type X collagen in a family with Schmid metaphyseal chondrodysplasia

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7989046

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Exclusion of human proteoglycan link protein (CRTL1) and type II collagen (COL2A1) genes in pseudoachondroplasia

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7989046

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An immunoelectron microscope study of the organization of proteoglycan monomer, link protein, and collagen in the matrix of articular cartilage

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7989046

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Radioimmunoassay of the 148-kilodalton cartilage protein. Distribution of the protein among bovine tissues

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7989046

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A highly polymorphic region 3' to the human type II collagen gene.

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7989046

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence against the structural gene encoding type II collagen (COL2A1) as the mutant locus in achondroplasia

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7989046

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cartilage matrix protein is a component of the collagen fibril of cartilage

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7989046

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A type X collagen mutation causes Schmid metaphyseal chondrodysplasia

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7989046

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage study in a large pedigree with Stickler syndrome: exclusion of COL2A1 as the mutant gene

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7989046

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

GT repeat polymorphism in the human proteoglycan link gene (CRTL1) promoter region

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7989046

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic linkage analysis of hereditary arthro-ophthalmopathy (Stickler syndrome) and the type II procollagen gene.

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7989046

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia: exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7989046

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SSCP and segregation analysis of the human type X collagen gene (COL10A1) in heritable forms of chondrodysplasia

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7989046

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structure and chromosomal location of the human gene encoding cartilage matrix protein

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7989046

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Polymorphic dinucleotide repeat in a cartilage matrix protein (CRTM) gene

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7989046

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A single base mutation in the type II procollagen gene (COL2A1) that converts glycine alpha 1-247 to serine in a family with late-onset spondyloepiphyseal dysplasia

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7989046

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structural and segregation analysis of the type II collagen gene (COL2A1) in some heritable chondrodysplasias

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7989046

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Optimization of microsatellite analysis for genetic mapping

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7989046

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Exclusion of candidate genes from a role in cleft lip with or without cleft palate: linkage and association studies

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7989046

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12 December 2020

based on heuristic

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Identifiers

DOI

10.1007/BF00206966

1 reference

stated in

Europe PubMed Central

PubMed publication ID

7989046

retrieved

1 August 2017

Dimensions Publication ID

1030232049

0 references

PubMed publication ID

7989046

1 reference

stated in

Europe PubMed Central

PubMed publication ID

7989046

retrieved

1 August 2017

 

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