A novel heterozygous T51I mutation of growth hormone receptor is not associated with short stature

Growth Hormone and IGF Research

Volumn 12, Issue 6, 2002, Pages 411-417

  Sakurai, Tatsuya ^a   Iida, Keiji ^a   Takahashi, Yutaka ^a   Kaji, Hidesuke ^b   Takakuwa, Satoshi ^c   Sumita, Ryou ^c   Okimura, Yasuhiko ^d   Chihara, Kazuo ^a  

^a KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b Lab of Phys Fitness and Sports S   (Japan)

^c KANAZAWA UNIVERSITY GRADUATE SCHOOL OF MEDICAL SCIENCE   (Japan)

^d KOBE UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

GH; GH insensitivity syndrome; GH receptor; GHBP; Mutation; Polymorphism; Signal transduction

Indexed keywords

ARGININE; CLONIDINE; GROWTH HORMONE; GROWTH HORMONE RECEPTOR; INSULIN; LEVOTHYROXINE; RECOMBINANT GROWTH HORMONE; STAT5 PROTEIN; MESSENGER RNA;

ADOLESCENT; ADULT; BODY HEIGHT; CHO CELL; CONTROLLED STUDY; EXON; FEMALE; GENE EXPRESSION; GENE FUNCTION; GENETIC ANALYSIS; GENETIC TRANSCRIPTION; HETEROZYGOSITY; HORMONE RESISTANCE; HUMAN; HYPOTHYROIDISM; JAPAN; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; REVIEW; SCHOOL CHILD; SHORT STATURE; SIGNAL TRANSDUCTION; WILD TYPE; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMAL; ARTICLE; CASE REPORT; CHILD; GENETIC TRANSFECTION; GENETICS; GROWTH DISORDER; HAMSTER; HETEROZYGOTE DETECTION; MOLECULAR CLONING;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMALS; CHILD; CHO CELLS; CLONING, MOLECULAR; CRICETINAE; GROWTH DISORDERS; HETEROZYGOTE DETECTION; HUMANS; MALE; MUTATION, MISSENSE; RECEPTORS, SOMATOTROPIN; RNA, MESSENGER; TRANSFECTION;

EID: 0036892522     PISSN: 10966374     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1096-6374(02)00082-5     Document Type: Article

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