Mutations in a Novel Isoform of TRIOBP That Encodes a Filamentous-Actin Binding Protein Are Responsible for DFNB28 Recessive Nonsyndromic Hearing Loss

In a large consanguineous Palestinian kindred, we previously mapped DFNB28—a locus associated with recessively inherited, prelingual, profound sensorineural hearing impairment—to chromosome 22q13.1. We report here that mutations in a novel 218-kDa isoform of TRIOBP (TRIO and filamentous actin [F-act...

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Hlavní autoři: Shahin, Hashem, Walsh, Tom, Sobe, Tama, Abu Sa’ed, Judeh, Abu Rayan, Amal, Lynch, Eric D., Lee, Ming K., Avraham, Karen B., King, Mary-Claire, Kanaan, Moein
Médium: Artigo
Jazyk:Inglês
Vydáno: The American Society of Human Genetics 2006
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1380212/
https://ncbi.nlm.nih.gov/pubmed/16385458
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