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Whole exome sequencing identified a novel single base pair insertion mutation in the EYS gene in a six generation family with retinitis pigmentosa
Hashmi, Jamil Amjad, Albarry, Maan Abdullah, Almatrafi, Ahmed, Albalawi, Alia M., Mehmood, Amir, Basit, SulmanYear:
2017
Language:
english
Journal:
Congenital Anomalies
DOI:
10.1111/cga.12225
File:
PDF, 939 KB
english, 2017