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Identification of a novel imprinting mechanism at the X-linked imprinted locus,X-linked Lymphocyte Regulated 3/4(Xlr3/4)

✍ Scribed by Sohaib M Qureshi, Michael B Murphy, Seth Kasowitz…


Book ID
120705087
Publisher
BioMed Central
Year
2013
Tongue
English
Weight
97 KB
Volume
6
Category
Article
ISSN
1756-8935

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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 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 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