Yx. Wang et al., ANALYSIS OF HUMAN GROWTH-HORMONE GENE 5' SEQUENCES IN ISOLATED GROWTH-HORMONE DEFICIENCY PATIENTS, Journal of Medical Genetics, 31(1), 1994, pp. 81-82
Human growth hormone (hGH) gene deletion (6.7 to 7.6 kb) is one of the
causes of isolated growth hormone deficiency (IGHD), named IGHD IA. I
GHD IA, however, only accounts for about 10% of the total IGHD patient
s. Most IGHD is caused by unknown mechanisms. Here, hGH gene 5' sequen
ces in three IGHD patients without hGH gene deletion were analysed to
see if there was any mutation hindering the expression of the hGH gene
.