Identification and functional analysis of novel human growth hormone secretagogue receptor (GHSR) gene mutations in Japanese subjects with short stature

Journal of Clinical Endocrinology and Metabolism

Volumn 96, Issue 2, 2011, Pages

  Inoue, Hiroshi ^a   Kangawa, Natsumi ^a   Kinouchi, Atsuko ^a   Sakamoto, Yukiko ^a   Kimura, Chizuko ^a   Horikawa, Reiko ^b   Shigematsu, Yosuke ^c   Itakura, Mitsuo ^a   Ogata, Tsutomu ^d   Fujieda, Kenji ^e  

^a UNIVERSITY OF TOKUSHIMA   (Japan)

^b NATIONAL CENTER FOR GLOBAL HEALTH AND MEDICINE   (Japan)

^c UNIVERSITY OF FUKUI HOSPITAL   (Japan)

^d NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^e ASAHIKAWA MEDICAL COLLEGE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

GHRELIN; GROWTH HORMONE SECRETAGOGUE RECEPTOR; MUTANT PROTEIN;

ARTICLE; BINDING AFFINITY; CONTROLLED STUDY; GENE FUNCTION; GENE IDENTIFICATION; GENETIC IDENTIFICATION; GROWTH HORMONE DEFICIENCY; HETEROLOGOUS EXPRESSION; HETEROZYGOSITY; HUMAN; IDIOPATHIC DISEASE; JAPANESE; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MOLECULAR MECHANICS; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PROTEIN FUNCTION; SHORT STATURE; SIGNAL TRANSDUCTION;

BLOTTING, WESTERN; BODY HEIGHT; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; DWARFISM; ENZYME-LINKED IMMUNOSORBENT ASSAY; GHRELIN; GROWTH DISORDERS; HUMANS; JAPAN; MUTATION; RECEPTORS, GHRELIN; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SIGNAL TRANSDUCTION; SUBCELLULAR FRACTIONS; TRANSFECTION;

EID: 79951684312     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2010-1570     Document Type: Article

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