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

Article, Other literature type English OPEN
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 (2005)
  • Publisher: The American Society of Human Genetics
  • Journal: The American Journal of Human Genetics, volume 78, issue 1, pages 144-152 (issn: 0002-9297)
  • Related identifiers: doi: 10.1086/499495, pmc: PMC1380212
  • Subject: Genetics(clinical) | Genetics | Report
    mesheuropmc: otorhinolaryngologic diseases

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 (TRI... View more
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