A copy of this work was available on the public web and has been preserved in the Wayback Machine. The capture dates from 2018; you can also visit the original URL.
The file type is
We carried out screening for mutations in the GH-1 gene in 29 sporadic Japanese subjects with severe Isolated Growth Hormone Deficiency (IGHD) by dideoxy fingerprinting (ddF). Three of 29 (N 10%) were heterozygous for each of the following GH-1 gene mutations including: 1) an G--'A transition in the third codon of the GH-1 signal peptide of exon 1 resulting in a Threonine to Alanine substitution, 2) a G--~A transition in the first base of the donor splice site of IVS 3 (+1G--A) and 3) a G-' Adoi:10.1507/endocrj.44.149 pmid:9152628 fatcat:eop5z3s32bcfnlnjezqgyetf6y