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Diagnosis of an X-linked type 2 congenital stationary night blindness using electroretinography and CACNA1F sequencing
Diagnóstico de un caso de ceguera nocturna estacionaria congénita tipo 2 ligada al cromosoma X mediante electrorretinografía y secuenciación del gen CACNA1F
J. Galindo-Boceroa,
, S. Macías-Francob, N. García-Gonzálezc, C. Valles-Antuñad, I. Hernando Aceroc, P. Rozas-Reyesb
Corresponding author
a Servicio de Oftalmología, Fundación Hospital de Jove, Gijón, Asturias, Spain
b Servicio de Oftalmología, Hospital Universitario Central de Asturias, Oviedo, Asturias, Spain
c Unidad de Genética, Área de Gestión Clínica de Pediatría, Hospital Universitario Central de Asturias, Oviedo, Asturias, Spain
d Servicio de Neurofisiología Clínica, Hospital Universitario Central de Asturias, Oviedo, Asturias, Spain
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