A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2) (Q28270822)

0 references

S E van Beersum

0 references

M Perälä

0 references

J B van Mourik

0 references

M L Warman

0 references

B R Olsen

0 references

B C Hamel

Multiple epiphysial dysplasia

0 references

language of work or name

English

0 references

publication date

January 1996

0 references

0 references

0 references

0 references

103-5

0 references

cites work

1 reference

https://api.crossref.org/works/10.1038%2FNG0196-103

7 January 2021

Dysplasia epiphysialis multiplex

1 reference

https://api.crossref.org/works/10.1038%2FNG0196-103

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0196-103

7 January 2021

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

https://api.crossref.org/works/10.1038%2FNG0196-103

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0196-103

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0196-103

7 January 2021

Multiple epiphyseal dysplasia, Fairbank type: morphologic and biochemical study of cartilage

1 reference

https://api.crossref.org/works/10.1038%2FNG0196-103

7 January 2021

Multiple epiphyseal dysplasia complicated by severe osteochondritis dissecans of the knee. Incidence in two families

1 reference

https://api.crossref.org/works/10.1038%2FNG0196-103

7 January 2021

Osteoarthritis associated with mild chondrodysplasia in transgenic mice expressing alpha 1(IX) collagen chains with a central deletion

1 reference

https://api.crossref.org/works/10.1038%2FNG0196-103

7 January 2021

Mice lacking alpha 1 (IX) collagen develop noninflammatory degenerative joint disease

1 reference

https://api.crossref.org/works/10.1038%2FNG0196-103

7 January 2021

FACIT collagens: diverse molecular bridges in extracellular matrices

1 reference

https://api.crossref.org/works/10.1038%2FNG0196-103

7 January 2021

D-periodic distribution of collagen type IX along cartilage fibrils

1 reference

https://api.crossref.org/works/10.1038%2FNG0196-103

7 January 2021

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://api.crossref.org/works/10.1038%2FNG0196-103

7 January 2021

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

https://api.crossref.org/works/10.1038%2FNG0196-103

7 January 2021

Molecular cloning of the human alpha 2(IX) collagen cDNA and assignment of the human COL9A2 gene to chromosome 1

1 reference

https://api.crossref.org/works/10.1038%2FNG0196-103

7 January 2021