Cargando...

Novel CLDN14 Mutations in Pakistani Families With Autosomal Recessive Non-Syndromic Hearing Loss

Mutations in the CLDN14 gene are known to cause autosomal recessive (AR) non-sydromic hearing loss (NSHL) at the DFNB29 locus on chromosome 21q22.13. As part of an ongoing study to localize and identify NSHL genes, the ARNSHL segregating in four Pakistani consanguineous families were mapped to the 2...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: Lee, Kwanghyuk, Ansar, Muhammad, Andrade, Paula B., Khan, Bushra, Santos-Cortez, Regie Lyn P., Ahmad, Wasim, Leal, Suzanne M.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2012
Materias:
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3276114/
https://ncbi.nlm.nih.gov/pubmed/22246673
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.34407
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!