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Prioritized sequencing of the second exon of MYO15A reveals a new mutation segregating in a Pakistani family with moderate to severe hearing loss

Mutations in MYO15A are associated with deafness in humans, and shaker 2 mice also exhibit a hearing loss due to defects of unconventional myosin 15a. We ascertained a consanguineous Pakistani family with recessively inherited moderate to severe hearing loss, which putatively segregated with markers...

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Bibliographische Detailangaben
Hauptverfasser: Bashir, Rasheeda, Fatima, Amara, Naz, Sadaf
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2011
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3534775/
https://ncbi.nlm.nih.gov/pubmed/22245518
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ejmg.2011.12.003
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