(Q74127577)

English

Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia

scientific article published on 01 January 1998

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452026%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452026%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

multiple epiphyseal dysplasia

1 reference

based on heuristic

inferred from title

1

1 reference

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9 November 2019

author name string

C Irven

2

1 reference

Europe PubMed Central

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9 November 2019

Z Mustafa

3

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452026%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

M D Briggs

4

1 reference

Europe PubMed Central

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9 November 2019

A Carr

5

1 reference

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9 November 2019

S A Lynch

6

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9 November 2019

R G Knowlton

7

1 reference

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9 November 2019

D H Cohn

8

1 reference

Europe PubMed Central

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9 November 2019

B Sykes

9

1 reference

Europe PubMed Central

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9 November 2019

publication date

1 January 1998

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9 November 2019

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452026%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Suppl 1

1 reference

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9 November 2019

S10-7

1 reference

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9 November 2019

Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in the pericentromeric region of chromosome 19

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110105

7 January 2021

based on heuristic

inferred from DOI database lookup

Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110105

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110105

7 January 2021

based on heuristic

inferred from DOI database lookup

Gonadal mosaicism in pseudoachondroplasia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110105

7 January 2021

based on heuristic

inferred from DOI database lookup

Linkage of typical pseudoachondroplasia to chromosome 19

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110105

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110105

7 January 2021

based on heuristic

inferred from DOI database lookup

The structure of human thrombospondin, an adhesive glycoprotein with multiple calcium-binding sites and homologies with several different proteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110105

7 January 2021

based on heuristic

inferred from DOI database lookup

Calcium ion binding to thrombospondin 1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110105

7 January 2021

based on heuristic

inferred from DOI database lookup

A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110105

7 January 2021

based on heuristic

inferred from DOI database lookup

Characterization of human and mouse cartilage oligomeric matrix protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110105

7 January 2021

based on heuristic

inferred from DOI database lookup

Exclusion of type II and type VI procollagen gene mutations in a five-generation family with multiple epiphyseal dysplasia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380110105

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.1380110105

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452026%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9452026%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

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