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
Abu Sa’ed, Judeh
Abu Rayan, Amal
Lynch, Eric D.
Lee, Ming K.
Avraham, Karen B.
- Publisher: The American Society of Human Genetics
The American Journal of Human Genetics,
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...