A novel type X collagen gene mutation (G595R) associated with Schmid- type metaphyseal chondrodysplasia

Journal of Human Genetics

Volumn 45, Issue 2, 2000, Pages 105-108

  Matsui, Yoshito ^a   Yasui, Natsuo ^b   Kawabata, Hidehiko ^a   Ozono, Keiichi ^a   Nakata, Ken ^b   Mizushima, Tetsuya ^c   Tsumaki, Noriyuki ^d   Kataoka, Eiichiro ^b   Fujita, Yoshi ^b   Ochi, Takahiro ^b  

^a RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^b OSAKA UNIVERSITY MEDICAL SCHOOL   (Japan)

^c Oji Paper Co Ltd   (Japan)

^d OSAKA POLICE HOSPITAL   (Japan)

Author keywords

Carboxyl terminal noncollagenous (NC1) domain; Metaphyseal chondrodysplasia Schmid type (MCDS); Mutation; Spondylometaphyseal dysplasia (SMD); Type X collagen gene (COL10A1); Type X collagenopathy

Indexed keywords

ARGININE; COLLAGEN TYPE 10; DNA; GLUTAMIC ACID; GLYCINE; NUCLEOTIDE;

ADOLESCENT; ARTICLE; CASE REPORT; CHONDRODYSPLASIA; DISEASE ASSOCIATION; FEMALE; GENE; GENE MUTATION; HUMAN; MISSENSE MUTATION; POLYMERASE CHAIN REACTION;

EID: 0034017445     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380050024     Document Type: Article

References (19)

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