Cargando…
Autosomal Recessive Nonsyndromic Hearing Impairment due to a Novel Deletion in the RDX Gene
The RDX gene anchors cytoskeletal actin of stereocilia to hair cell transmembrane and is responsible for autosomal recessive nonsyndromic hearing impairment (ARNSHI) due to DFNB24. A genome scan was performed using DNA samples from a consanguineous Pakistani family with ARNSHI. A significant maximum...
Autores principales: | Lee, Kwanghyuk, Amin ud Din, Mohammad, Ansar, Muhammad, Santos-Cortez, Regie Lyn P., Ahmad, Wasim, Leal, Suzanne M. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
SAGE-Hindawi Access to Research
2011
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3335613/ https://www.ncbi.nlm.nih.gov/pubmed/22567349 http://dx.doi.org/10.4061/2011/294675 |
Ejemplares similares
-
A Novel ESRRB Deletion Is a Rare Cause of Autosomal Recessive Nonsyndromic Hearing Impairment among Pakistani Families
por: Lee, Kwanghyuk, et al.
Publicado: (2011) -
A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13
por: Ansar, Muhammad, et al.
Publicado: (2011) -
ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment
por: Bharadwaj, Thashi, et al.
Publicado: (2021) -
Novel missense and 3’-UTR splice site variants in
LHFPL5 cause autosomal recessive non-syndromic hearing
impairment
por: Liaqat, Khurram, et al.
Publicado: (2018) -
Mutation of ATF6 causes autosomal recessive achromatopsia
por: Ansar, Muhammad, et al.
Publicado: (2015)