Reinforcement of a minor alternative splicing event in MYO7A due to a missense mutation results in a mild form of retinopathy and deafness

PURPOSE: Recessive mutations of the myosin VIIA (MYO7A) gene are reported to be responsible for both a deaf–blindness syndrome (Usher type 1B [USH1B] and atypical Usher syndrome) and nonsyndromic hearing loss (HL; Deafness, Neurosensory, Autosomal Recessive 2 [DFNB2]). The existence of DFNB2 is cont...

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Hlavní autoři: Ben Rebeh, Imen, Morinière, Madeleine, Ayadi, Leila, Benzina, Zeineb, Charfedine, Ilhem, Feki, Jamel, Ayadi, Hammadi, Ghorbel, Abdelmonem, Baklouti, Faouzi, Masmoudi, Saber
Médium: Artigo
Jazyk:Inglês
Vydáno: Molecular Vision 2010
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2956701/
https://ncbi.nlm.nih.gov/pubmed/21031134
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