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Keywords: Novel nonsense mutation
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Journal Articles
A Novel GH1 Mutation in a Family with Isolated Growth Hormone Deficiency Type II
Available to PurchaseZoran Gucev, Velibor Tasic, Liljana Saranac, Heike Stobbe, Jürgen Kratzsch, Jürgen Klammt, Roland Pfäffle
Journal:
Hormone Research in Paediatrics
Horm Res Paediatr (2012) 77 (3): 200–204.
Published Online: 22 December 2011
... and the son (c.199A>T), which introduces a stop codon in exon 3. Conclusion: We present a family with IGHD II, with severe short stature, no phenotypic characteristics of GHD and a novel nonsense mutation in exon 3 of the GH1 gene. As fibroblasts were unavailable, we used computer analysis and we propose...
