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

Clinical Endocrinology

Volumn 74, Issue 2, 2011, Pages 223-233

  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

GROWTH HORMONE RELEASING FACTOR; RNA; THYMOCYTE ANTIBODY; TRANSCRIPTION FACTOR PIT 1;

ADOLESCENT; ADULT; ARTICLE; CHILD; CONTROLLED STUDY; EXON; FAMILY; FEMALE; GENE; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; GROWTH HORMONE RELEASING HORMONE RECEPTOR GENE; HETEROZYGOSITY; HUMAN; HUMAN CELL; IN VITRO STUDY; JAPANESE; MAJOR CLINICAL STUDY; MALE; MOLECULAR MECHANICS; PRIORITY JOURNAL; PROMOTER REGION; RNA SPLICING; SCHOOL CHILD; SHORT STATURE; SISTER CHROMATID;

CHILD; CHILD, PRESCHOOL; CYCLIC AMP; DWARFISM; ELECTROPHORETIC MOBILITY SHIFT ASSAY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; MALE; MUTATION; RECEPTORS, NEUROPEPTIDE; RECEPTORS, PITUITARY HORMONE-REGULATING HORMONE;

EID: 78651332749     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2010.03911.x     Document Type: Article

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