An α1(II) Gly913 to Cys substitution prevents the matrix incorporation of type II collagen which is replaced with type I and III collagens in cartilage from a patient with hypochondrogenesis

American Journal of Medical Genetics - Seminars in Medical Genetics

Volumn 63, Issue 1, 1996, Pages 129-136

  Mundlos, Stefan ^a,c   Chan, Danny ^a   McGill, Jim ^b   Bateman, John F ^a  

^a UNIVERSITY OF MELBOURNE   (Australia)

^b ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

^c HARVARD MEDICAL SCHOOL   (United States)

Author keywords

Cartilage; Chondrodysplasia; Hypochondrogenesis; Mutation; Type II collagen

Indexed keywords

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CELL DIFFERENTIATION; CHONDROGENESIS; FEMALE; GENE EXPRESSION; GENE LOCATION; GENE MUTATION; HUMAN; NEWBORN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN SYNTHESIS;

ADULT; AMINO ACID SEQUENCE; CARTILAGE; CLONING, MOLECULAR; COLLAGEN; CYSTEINE; EXTRACELLULAR MATRIX; FEMALE; GLYCINE; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; OSTEOCHONDRODYSPLASIAS; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN STRUCTURE, SECONDARY; RNA PROCESSING, POST-TRANSCRIPTIONAL;

EID: 0029870866     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960503)63:1<129::AID-AJMG23>3.0.CO;2-P     Document Type: Article

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