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Functional analysis of splicing mutations in MYO7A and USH2A genes

✍ Scribed by T Jaijo; E Aller; MJ Aparisi; G García-García; I Hernan; MJ Gamundi; C Nájera; M Carballo; JM Millán

Book ID
110889061
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
645 KB
Volume
79
Category
Article
ISSN
0009-9163

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## Communicated by Dvorah Abeliovich Recessive mutations of MYO7A, encoding unconventional myosin VIIA, can cause either a deaf-blindness syndrome (type 1 Usher syndrome; USH1B) or nonsyndromic deafness (DFNB2). In our study, deafness segregating as a recessive trait in 24 consanguineous families