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Novel missense and 3’-UTR splice site variants in LHFPL5 cause autosomal recessive non-syndromic hearing impairment

LHFPL5, the gene for DFNB67, underlies autosomal recessive nonsyndromic hearing impairment. We identified seven Pakistani families that mapped to 6p21.31, which includes the LHFPL5 gene. Sanger sequencing of LHFPL5 using DNA samples from hearing impaired and unaffected members of these seven familie...

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Detalles Bibliográficos
Autores principales:	Liaqat, Khurram, Chiu, Ilene, Lee, Kwanghyuk, Chakchouk, Imen, Andrade-Elizondo, Paula B., Santos-Cortez, Regie Lyn P., Hussain, Shabir, Nawaz, Shoaib, Ansar, Muhammad, Khan, Muhammad Nasim, Basit, Sulman, Schrauwen, Isabelle, Ahmad, Wasim, Leal, Suzanne M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	2018
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6202120/ https://www.ncbi.nlm.nih.gov/pubmed/30177809 http://dx.doi.org/10.1038/s10038-018-0502-3

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