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Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3)

Employing various probes from the proximal part of the Xq21 region, which is known to harbor the DFN3 gene, we have investigated 13 unrelated male probands with X-linked deafness, to detect possible deletions. For two of these patients, microdeletions could be detected by using probe pHU16 (DXS26)....

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Dettagli Bibliografici
Autori principali: Bach, I., Brunner, H. G., Beighton, P., Ruvalcaba, R. H. A., Reardon, W., Pembrey, M. E., van der Velde-Visser, S. D., Bruns, G. A. P., Cremers, C. W. R. J., Cremers, F. P. M., Ropers, H.-H.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1992
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682865/
https://ncbi.nlm.nih.gov/pubmed/1609803
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