Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia

Human Genetics

Volumn 112, Issue 1, 2003, Pages 84-90

  Mabuchi, Akihiko ^a   Manabe, Noriyo ^a   Haga, Nobuhiko ^a   Kitoh, Hiroshi ^b   Ikeda, Toshiyuki ^a   Kawaji, Hiroyuki ^c   Tamai, Kazuya ^d   Hamada, Junichiro ^d   Nakamura, Shigeru ^e   Brunetti Pierri, Nicola ^f   Kimizuka, Mamori ^g   Takatori, Yoshio ^a   Nakamura, Kozo ^a   Nishimura, Gen ⁱ   Ohashi, Hirofumi ^h   Ikegawa, Shiro ^a,g  

^a UNIVERSITY OF TOKYO   (Japan)

^b NAGOYA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c Sanyudo Hospital   (Japan)

^d DOKKYO MEDICAL UNIVERSITY   (Japan)

^e TEIKYO UNIVERSITY   (Japan)

^f UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^g National Rehabilitation Center for the Disabled   (Japan)

^h SAITAMA CHILDREN'S MEDICAL CENTER   (Japan)

ⁱ NONE

Author keywords

[No Author keywords available]

Indexed keywords

ASPARTIC ACID; CALMODULIN; CARTILAGE OLIGOMERIC MATRIX PROTEIN; CYSTEINE; CARTILAGE MATRIX PROTEIN; GLYCOPROTEIN; SCLEROPROTEIN;

ARTICLE; BONE DYSPLASIA; CALCIFYING CHONDRODYSTROPHY; CARBOXY TERMINAL SEQUENCE; CLINICAL ARTICLE; CONTROLLED STUDY; CORRELATION ANALYSIS; DISEASE SEVERITY; EXON; FRAMESHIFT MUTATION; GENE DELETION; GENE FUNCTION; GENE MUTATION; GENETIC ANALYSIS; GENETIC IDENTIFICATION; GENOTYPE; HUMAN; HUMAN CELL; INTRON; MUTATIONAL ANALYSIS; NUCLEOTIDE REPEAT; NUCLEOTIDE SEQUENCE; OUTCOMES RESEARCH; PHENOTYPE; PRIORITY JOURNAL; PSEUDOACHONDROPLASIA; SHORT STATURE; ACHONDROPLASIA; CASE REPORT; CELL LINE; CHONDRODYSPLASIA; CYTOLOGY; DWARFISM; FEMALE; GENETICS; HOSPITALIZATION; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; MONONUCLEAR CELL; MUTATION; PEDIGREE; RADIOGRAPHY; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

INSERTION SEQUENCES;

ACHONDROPLASIA; BASE SEQUENCE; CELL LINE, TRANSFORMED; DWARFISM; EXTRACELLULAR MATRIX PROTEINS; FEMALE; FRAMESHIFT MUTATION; GENOTYPE; GLYCOPROTEINS; HUMANS; LEUKOCYTES, MONONUCLEAR; MALE; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; OSTEOCHONDRODYSPLASIAS; PEDIGREE; PHENOTYPE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; SEQUENCE DELETION; SEVERITY OF ILLNESS INDEX;

EID: 0037209030     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-002-0845-9     Document Type: Article

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