Identification of cartilage oligomeric matrix protein (COMP) gene mutations in patients with pseudoachondroplasia and multiple epiphyseal dysplasia

Journal of Human Genetics

Volumn 48, Issue 5, 2003, Pages 222-225

  Song, Hae Ryong ^a   Lee, Kwang Soo ^b   Li, Qi Wei ^a   Koo, Soo Kyung ^b   Jung, Sung Chul ^b  

^a Gyeongsang National University School of Medicine   (South Korea)

^b Korea National Institute of Health   (South Korea)

Author keywords

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

Indexed keywords

CALMODULIN; CARTILAGE OLIGOMERIC MATRIX PROTEIN;

ADOLESCENT; ADULT; ARTICLE; BONE DYSPLASIA; CARBOXY TERMINAL SEQUENCE; CLINICAL ARTICLE; CODON; COMP GENE; EXON; FEMALE; GENE; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; HUMAN; KOREA; MALE; MISSENSE MUTATION; MULTIPLE EPIPHYSEAL DYSPLASIA; NUCLEOTIDE REPEAT; PSEUDOACHONDROPLASIA; SCHOOL CHILD;

ADOLESCENT; ADULT; ALLELES; AMINO ACID SUBSTITUTION; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXTRACELLULAR MATRIX PROTEINS; FEMALE; GLYCOPROTEINS; HETEROZYGOTE; HUMANS; MALE; MUTATION; OSTEOCHONDRODYSPLASIAS; SEQUENCE DELETION; TRINUCLEOTIDE REPEATS;

EID: 0037971152     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-003-0013-7     Document Type: Article

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