Novel mutation in exon 18 of the cartilage oligomeric matrix protein gene causes a severe pseudoachondroplasia

American Journal of Medical Genetics

Volumn 104, Issue 2, 2001, Pages 135-139

  Mabuchi, Akihiko ^a   Haga, Nobuhiko ^b   Ikeda, Toshiyuki ^a   Manabe, Noriyo ^b   Ohashi, Hirofumi ^c   Takatori, Yoshio ^b   Nakamura, Kozo ^b   Ikegawa, Shiro ^a,d  

^a INST OF PHYS AND CHEMICAL RESEARCH   (Japan)

^b UNIVERSITY OF TOKYO   (Japan)

^c SAITAMA CHILDREN'S MEDICAL CENTER   (Japan)

^d UNIVERSITY OF TOKYO   (Japan)

Author keywords

C terminal globular domain; Cartilage oligomeric matrix protein; Mutation; Phenotypegenotype correlation; Pseudoachondroplasia

Indexed keywords

MATRIX PROTEIN; PROTEIN CLR; PROTEIN COMP; UNCLASSIFIED DRUG;

ARTICLE; BONE DYSPLASIA; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CLINICAL FEATURE; CORRELATION FUNCTION; DISEASE CLASSIFICATION; EXON; GENE MUTATION; GENETIC CODE; GENOTYPE; HUMAN; MALE; MOLECULAR BIOLOGY; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PSEUDOACHONDROPLASIA; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY;

ACHONDROPLASIA; ADOLESCENT; AMINO ACID SEQUENCE; EXONS; EXTRACELLULAR MATRIX PROTEINS; GENOTYPE; GLYCOPROTEINS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; PROTEIN STRUCTURE, TERTIARY; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 0035935615     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10067     Document Type: Article

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