Mutation at cleavage site of insulin-like growth factor receptor in a short-stature child born with intrauterine growth retardation

Journal of Clinical Endocrinology and Metabolism

Volumn 90, Issue 8, 2005, Pages 4679-4687

  Kawashima, Yuki ^a   Kanzaki, Susumu ^a   Yang, Fan ^e   Kinoshita, Tomoe ^a   Hanaki, Keiichi ^a   Nagaishi, Jun Ichi ^a   Ohtsuka, Yoshihiko ^c   Hisatome, Ichirou ^a   Ninomoya, Haruaki ^a   Nanba, Eiji ^b   Fukushima, Toshiaki ^d   Takahashi, Shin Ichiro ^d  

^a TOTTORI UNIVERSITY   (Japan)

^b TOTTORI UNIVERSITY   (Japan)

^c LSI MEDIENCE CORPORATION   (Japan)

^d UNIVERSITY OF TOKYO   (Japan)

^e SICHUAN UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; GLUTAMINE; LYSINE; PROTEIN SUBUNIT; SOMATOMEDIN RECEPTOR; TETRAPEPTIDE; THYMIDINE; TRITIUM;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOPHOSPHORYLATION; BETA CHAIN; BINDING AFFINITY; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; DNA SYNTHESIS; FEMALE; FIBROBLAST; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; HUMAN CELL; IMMUNOBLOTTING; INTRAUTERINE GROWTH RETARDATION; LOW BIRTH WEIGHT; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SHORT STATURE; SITE DIRECTED MUTAGENESIS;

ADOLESCENT; ADULT; BODY HEIGHT; CHILD; CHILD, PRESCHOOL; DNA; FEMALE; FETAL GROWTH RETARDATION; FIBROBLASTS; HETEROZYGOTE; HUMANS; INSULIN-LIKE GROWTH FACTOR I; MALE; MUTATION, MISSENSE; PEDIGREE; PHOSPHORYLATION; RECEPTOR, IGF TYPE 1;

EID: 23844528772     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2004-1947     Document Type: Article

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