Mutations within the gene encoding the α1 (X) chain of type X collagen (COL1OA1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia

Journal of Medical Genetics

Volumn 33, Issue 6, 1996, Pages 450-457

  Wallis, Gillian A ^a   Rash, Bharat ^a   Sykes, Bryan ^b   Bonaventure, Jackie ^d   Maroteaux, Pierre ^d   Zabel, Bernhard ^e   Wynne Davies, Ruth ^c   Grant, Michael E ^a   Boot Handford, Raymond P ^a  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c CHURCHILL HOSPITAL   (United Kingdom)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e JOHANNES GUTENBERG UNIVERSITY   (Germany)

Author keywords

Chondrodysplasia; Collagen; Mutation

Indexed keywords

COLLAGEN TYPE 10; GENE PRODUCT;

AMINO ACID SUBSTITUTION; ARTICLE; CHONDRODYSPLASIA; CLINICAL ARTICLE; GENE DELETION; GENE MUTATION; GENE STRUCTURE; HETEROZYGOTE; HUMAN; HUMAN CELL; METAPHYSIS; OPEN READING FRAME; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; SINGLE STRAND CONFORMATION POLYMORPHISM; STOP CODON;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; COLLAGEN; EXONS; FEMALE; HUMANS; INFANT; INTRONS; MALE; MUTATION; OSTEOCHONDRODYSPLASIAS; PEDIGREE; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROMOTER REGIONS (GENETICS);

EID: 0029952201     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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