Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics

OBJECTIVES: Till date, mutations in the genes PAX3 and MITF have been described in Waardenburg syndrome (WS), which is clinically characterised by congenital hearing loss and pigmentation anomalies. Our study intended to determine the frequency of mutations and deletions in these genes, to assess th...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Wildhardt, Gabriele, Zirn, Birgit, Graul-Neumann, Luitgard M, Wechtenbruch, Juliane, Suckfüll, Markus, Buske, Annegret, Bohring, Axel, Kubisch, Christian, Vogt, Stefanie, Strobl-Wildemann, Gertrud, Greally, Marie, Bartsch, Oliver, Steinberger, Daniela
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BMJ Publishing Group 2013
Pynciau:
Genetics and Genomics
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3612789/
https://ncbi.nlm.nih.gov/pubmed/23512835
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bmjopen-2012-001917
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