Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia

Journal of Human Genetics

Volumn 43, Issue 4, 1998, Pages 259-261

  Sawai, Hideaki ^a   Ida, Akinori ^a   Nakata, Yuko ^a   Koyama, Koji ^a  

^a HYOGO COLLEGE OF MEDICINE   (Japan)

Author keywords

Missense mutation; Osteochondrodysplasias; Schmid metaphyseal chondrodysplasia (SMCD); Sequencing; Type X collagen gene

Indexed keywords

AMINO ACID; COLLAGEN TYPE 10; CYSTEINE; DNA; TYROSINE;

AMINO ACID SUBSTITUTION; ARTICLE; BONE RADIOGRAPHY; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CHONDRODYSPLASIA; CODON; FEMALE; HUMAN; METAPHYSIS; MISSENSE MUTATION; POLYMERASE CHAIN REACTION;

ADULT; AMINO ACID SUBSTITUTION; CODON; COLLAGEN; CYSTEINE; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MUTATION, MISSENSE; OSTEOCHONDRODYSPLASIAS; PEDIGREE; POLYMERASE CHAIN REACTION; TYROSINE;

EID: 0031650698     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380050085     Document Type: Article

References (12)

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