Growth hormone (GH) insensitivity syndrome with high serum GH-binding protein levels caused by a heterozygous splice site mutation of the GH receptor gene producing a lack of intracellular domain

Journal of Clinical Endocrinology and Metabolism

Volumn 83, Issue 2, 1998, Pages 531-537

  Iida, Keiji ^a   Takahashi, Yutaka ^a   Kaji, Hidesuke ^a   Nose, Osamu ^b   Okimura, Yasuhiko ^a   Abe, Hiromi ^a   Chihara, Kazuo ^a  

^a KOBE UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b Nose Clinic   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; COMPLEMENTARY DNA; DNA; GROWTH HORMONE; GROWTH HORMONE BINDING PROTEIN; GROWTH HORMONE RECEPTOR; MESSENGER RNA; PROTEIN; RESTRICTION ENDONUCLEASE; RNA;

ADOLESCENT; ALLELE; ARTICLE; ASSAY; CASE REPORT; CHILD; CONTROLLED STUDY; EXON; FEMALE; GENE; GENE MUTATION; GENOTYPE; HORMONE RESISTANCE; HUMAN; HUMAN CELL; INTRON; MALE; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RADIOIMMUNOASSAY; SIGNAL TRANSDUCTION; STOP CODON;

ADOLESCENT; CARRIER PROTEINS; CHILD; DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; DNA, COMPLEMENTARY; FEMALE; HETEROZYGOTE; HUMAN GROWTH HORMONE; HUMANS; INSULIN-LIKE GROWTH FACTOR BINDING PROTEIN 3; INSULIN-LIKE GROWTH FACTOR I; INTRONS; JAPAN; MALE; PEDIGREE; POINT MUTATION; RECEPTORS, SOMATOTROPIN; RNA SPLICING;

EID: 0031732473     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.83.2.531     Document Type: Article

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