Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia

American Journal of Medical Genetics

Volumn 85, Issue 5, 1999, Pages 486-490

  Deere, Michelle ^a   Sanford, Tiffany ^a   Francomano, Clair A ^b   Daniels, Karla ^c   Hecht, Jacqueline T ^a  

^a UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c UNIVERSITY OF IOWA   (United States)

Author keywords

Cartilage oligomeric matrix protein; COMP; Dwarfism; EDM1; Multiple epiphyseal dysplasia; Mutation; PSACH; Pseudoachondroplasia

Indexed keywords

CARTILAGE OLIGOMERIC MATRIX PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ACHONDROPLASIA; AMINO ACID SUBSTITUTION; ARTICLE; CALCIFYING CHONDRODYSTROPHY; CLINICAL ARTICLE; FEMALE; HUMAN; JOINT LAXITY; MALE; OSTEOARTHRITIS; PRIORITY JOURNAL; SHORT STATURE; SOMATIC MUTATION;

ACHONDROPLASIA; CARTILAGE; EPIPHYSES; EXONS; EXTRACELLULAR MATRIX PROTEINS; FEMALE; GERM-LINE MUTATION; GLYCOPROTEINS; HUMANS; MALE; MOSAICISM; MUTATION; OSTEOCHONDRODYSPLASIAS; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 0033609802     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990827)85:5<486::AID-AJMG10>3.0.CO;2-O     Document Type: Article

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