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Cytological identification of two X-chromosome types in the wood lemming (Myopus schisticolor)

✍ Scribed by Eberhard W. Herbst; Karl Fredga; Fritz Frank; Heinz Winking; Alfred Gropp


Publisher
Springer
Year
1978
Tongue
English
Weight
681 KB
Volume
69
Category
Article
ISSN
0009-5915

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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