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Pseudohypoparathyroidism type 1a and the GNAS p.R231H mutation: Somatic mosaicism in a mother with two affected sons

✍ Scribed by Ying Fai Ngai; Chieko Chijiwa; Saadet Mercimek-Mahmutoglu; Laura Stewart; Siu-Li Yong; Wendy P. Robinson; William T. Gibson


Book ID
101455094
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
195 KB
Volume
152A
Category
Article
ISSN
1552-4825

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The molecular basis of X-linked deafness
✍ Yvette J. M. de Kok; Cor W. R. J. Cremers; Hans-Hilger Ropers; Frans P. M. Creme πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 163 KB

We have investigated two unrelated males with X-linked deafness type 3 (DFN3) for mutations in the POU3F4 gene. In one patient, we observed a mutation that is predicted to result in an Arg330Ser amino acid substitution. In another DFN3 patient, a somatic mosaicism for an Arg323Gly amino acid substit