Identification and Functional Analysis of Novel Human Growth Hormone Secretagogue Receptor (GHSR) Gene Mutations in Japanese Subjects with Short Stature - Inoue, Hiroshi; Kangawa, Natsumi; Kinouchi, Atsuko; Sakamoto, Yukiko; Kimura, Chizuko; Horikawa, Reiko; Shigematsu, Yosuke; Itakura, Mitsuo; Ogata, Tsutomu; Fujieda, Kenji (The journal of clinical endocrinology and metabolism, 2011)
Keywords: Blotting, Western; Body height; Body Height - genetics; Body Height - physiology; Cohort Studies; DNA Mutational Analysis; DNA, Complementary - biosynthesis; DNA, Complementary - genetics; Dwarfism - genetics; Enzyme-Linked Immunosorbent Assay; Etiology; Ghrelin; Ghrelin - metabolism; Growth Disorders - genetics; Growth hormone; Growth hormones; Humans; Intracellular signalling; Inverse agonists; Japan; Molecular modelling; Mutation; Mutation - genetics; Mutation - physiology; Point mutation; Population genetics; Receptor mechanisms; Receptors, Ghrelin - genetics; Reverse Transcriptase Polymerase Chain Reaction; Signal Transduction - genetics; Subcellular Fractions - metabolism; Transfection; Japan