Article
A novel homozygous MYO7A mutation involved in a Venezuelan population with high frequency of USHER1B.
Ophthalmic genetics - 1 Sept 2016
Guzmán Horbelys O, Palacios Aura M, De Almada María I, Utrera René A
Abstract excerpt
BACKGROUND: Macanao's population in Venezuela has perhaps the greatest incidence of USH1B known in Latin America (79 cases per 100,000 population); however, until now no mutation in the MYO7A gene had been reported for this population. MATERIALS AND METHODS: This study aimed to evaluate the entire coding region of the MYO7A gene by direct sequencing of PCR products obtained from patients clinically diagnosed with...
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