Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa


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Angius A., Uva P., Buers I., Oppo M., Puddu A., Onano S., ...Daha Fazla

American Journal of Human Genetics, cilt.99, sa.1, ss.236-245, 2016 (SCI-Expanded, Scopus)