Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia

Human Mutation

Volumn 9, Issue 2, 1997, Pages 131-135

  Ikegawa, Shiro ^a   Nakamura, Kozo ^b   Nagano, Akira ^b   Haga, Nobuhiko ^b,c   Nakamura, Yusuke ^a  

^a UNIVERSITY OF TOKYO   (Japan)

^b UNIVERSITY OF TOKYO   (Japan)

^c SHIZUOKA CHILDREN'S HOSPITAL   (Japan)

Author keywords

N terminal globular domain; schmid metaphyseal chondrodysplasia; type X collagen gene

Indexed keywords

COLLAGEN TYPE 10;

AMINO TERMINAL SEQUENCE; ARTICLE; CARBOXY TERMINAL SEQUENCE; CHONDRODYSPLASIA; CLINICAL ARTICLE; GENE DELETION; GENE MUTATION; HUMAN; MISSENSE MUTATION; PRIORITY JOURNAL;

ASIAN CONTINENTAL ANCESTRY GROUP; COLLAGEN; DNA MUTATIONAL ANALYSIS; HUMANS; JAPAN; MUTATION; OSTEOCHONDRODYSPLASIAS; POLYMERASE CHAIN REACTION; RESTRICTION MAPPING; SEQUENCE ANALYSIS, DNA;

EID: 0030901286     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)9:2<131::AID-HUMU5>3.0.CO;2-C     Document Type: Article

References (2)

1. Chan D, Cole WG, Rogers JG, Bateman JF (1995) Type X collagen multimer assembly in vitro is prevented by a Gly618 to Val mutation in the alpha 1(X) NC1 domain resulting in Schmid metaphyseal chondrodysplasia. J Biol Chem 270:4558-4562.
2. Sykes B (1990) Bone disease cracks genetics. Nature 348:18-20.