Article
Molecular study of human growth hormone gene cluster in three families with isolated growth hormone deficiency and similar phenotype.
European journal of pediatrics - 1 Sept 1994
Cacciari E, Pirazzoli P, Gualandi S, Baroncini C, Baldazzi L, Trevisani B, Capelli M, Zucchini S, Balsamo A, Cicognani A
Abstract excerpt
The growth hormone (GH) gene (hGH-N) cluster was analysed using polymerase chain reaction, Southern and polymorphism analysis in five patients (including two pairs of siblings) with extreme short stature and absence of GH secretion. Patients 1 and 2 (siblings) were homozygous for a large deletion removing four genes of the cluster: hGH-N, hCS-L, hCS-A and hGH-V. Both siblings produced high anti-GH antibody levels...
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