Phenotypic expressions of a Gly154Arg mutation in type II collagen in two unrelated patients with spondyloepimetaphyseal dysplasia (SEMD)

American Journal of Medical Genetics

Volumn 63, Issue 1, 1996, Pages 111-122

  Kaitila, I ^a,b   Korkko J ^c,d   Marttinen, E ^a   Ala Kokko, L ^c,d  

^a HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^b UNIVERSITY OF HELSINKI AND HELSINKI UNIVERSITY HOSPITAL   (Finland)

^c UNIVERSITY OF OULU   (Finland)

^d THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

COL2A1; collagen; genotype phenotype; osteochondrodysplasia; spondyloepimetaphyseal dysplasia

Indexed keywords

AMINO ACID SUBSTITUTION; ARTICLE; CHONDRODYSPLASIA; CLINICAL FEATURE; COLLAGEN DISEASE; DATA ANALYSIS; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; HUMAN; LORDOSIS; OSTEOTOMY; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SHORT STATURE; SPONDYLOEPIPHYSEAL DYSPLASIA; ADULT; AGING; AMINO ACID SEQUENCE; BONE; BONE DEVELOPMENT; CASE REPORT; CLASSIFICATION; FEMALE; GENETICS; GENOTYPE; MALE; MOLECULAR GENETICS; NEWBORN; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PEDIGREE; POINT MUTATION; RADIOGRAPHY; SPINE;

ARGININE; COLLAGEN; GLYCINE;

ADULT; AGING; AMINO ACID SEQUENCE; ARGININE; BASE SEQUENCE; BONE AND BONES; BONE DEVELOPMENT; COLLAGEN; FEMALE; GENOTYPE; GLYCINE; HUMANS; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; OSTEOCHONDRODYSPLASIAS; PEDIGREE; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; SPINE;

EID: 0029665840     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960503)63:1<111::AID-AJMG21>3.0.CO;2-Q     Document Type: Article

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