Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse

Autosomal recessive nonsyndromic hearing loss is a genetically heterogeneous disorder. Here, we report a severe-to-profound sensorineural hearing loss locus, DFNB100 on chromosome 5q13.2-q23.2. Exome enrichment followed by massive parallel sequencing revealed a c.2510G>A transition variant in PPI...

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Publicat a:PLoS Genet
Autors principals: Yousaf, Rizwan, Gu, Chunfang, Ahmed, Zubair M., Khan, Shaheen N., Friedman, Thomas B., Riazuddin, Sheikh, Shears, Stephen B., Riazuddin, Saima
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2018
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5891075/
https://ncbi.nlm.nih.gov/pubmed/29590114
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1007297
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