Article
Heterozygous nonsense mutation in exon 3 of the growth hormone receptor (GHR) in severe GH insensitivity (Laron syndrome) and the issue of the origin and function of the GHRd3 isoform.
The Journal of clinical endocrinology and metabolism - 1 Apr 2003
Pantel Jacques, Grulich-Henn Jürgen, Bettendorf Markus, Strasburger Christian J, Heinrich Udo, Amselem Serge
Abstract excerpt
Mutations in the GH receptor gene (GHR) cause congenital GH insensitivity, a genetic disorder characterized by severe growth retardation associated with high serum concentration of GH and low serum levels of IGF-I. Molecular defects have been identified in all GHR-coding exons, except exon 3, a s...
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