An Alteration in ELMOD3, an Arl2 GTPase-Activating Protein, Is Associated with Hearing Impairment in Humans

Exome sequencing coupled with homozygosity mapping was used to identify a transition mutation (c.794T>C; p.Leu265Ser) in ELMOD3 at the DFNB88 locus that is associated with nonsyndromic deafness in a large Pakistani family, PKDF468. The affected individuals of this family exhibited pre-lingual, se...

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Detalles Bibliográficos
Autores principales: Jaworek, Thomas J., Richard, Elodie M., Ivanova, Anna A., Giese, Arnaud P. J., Choo, Daniel I., Khan, Shaheen N., Riazuddin, Sheikh, Kahn, Richard A., Riazuddin, Saima
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3764207/
https://www.ncbi.nlm.nih.gov/pubmed/24039609
http://dx.doi.org/10.1371/journal.pgen.1003774

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3764207/
https://www.ncbi.nlm.nih.gov/pubmed/24039609
http://dx.doi.org/10.1371/journal.pgen.1003774

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