ISSN:
1432-1076
Keywords:
Key words Autosomal dominant growth hormone deficiency
;
GH-1 gene
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract We report a 1-year-old Japanese boy and his father with isolated growth hormone deficiency II. In both cases, a G → A transition of the first base of the donor splice site of intron 3 of the growth hormone-1 gene was detected. All unaffected family members were homozygous normal. Conclusion This is the fourth reported case of autosomal isolated growth hormone deficiency II with a G → A transition. The CG dinucleotide at the exon 3-intron 3 junction of the growth hormone-1 gene appears to be a hot spot for point mutations.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/s004310051164
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