Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia)

Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia)

Hearing loss (HL) is one of the most common sensorineural disorders and several dozen genes contribute to its pathogenesis. Establishing a genetic diagnosis of HL is of great importance for clinical evaluation of deaf patients and for estimating recurrence risks for their families. Efforts to identi...

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Bibliographic Details
Main Authors: Сhurbanov, Alexander Y., Karafet, Tatiana M., Morozov, Igor V., Mikhalskaia, Valeriia Yu., Zytsar, Marina V., Bondar, Alexander A., Posukh, Olga L.
Other Authors: Univ Arizona, Arizona Res Labs
Language:en
Published: Public Library of Science 2016
Subjects:
SMITH-MAGENIS-SYNDROME
ENLARGED VESTIBULAR AQUEDUCT
ACID-INDUCED 1
RETINOIC ACID
17P11.2 DELETIONS
PENDRED-SYNDROME
PDS MUTATIONS
MOUSE MODELS
INNER-EAR
PROTEIN
Online Access:http://hdl.handle.net/10150/614680
http://arizona.openrepository.com/arizona/handle/10150/614680

Internet

http://hdl.handle.net/10150/614680
http://arizona.openrepository.com/arizona/handle/10150/614680

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