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

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

American Journal of Human Genetics, vol.99, no.1, pp.236-245, 2016 (SCI-Expanded, Scopus)

• Publication Type: Article / Article
• Volume: 99 Issue: 1
• Publication Date: 2016
• Doi Number: 10.1016/j.ajhg.2016.05.026
• Journal Name: American Journal of Human Genetics
• Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
• Page Numbers: pp.236-245
• Open Archive Collection: AVESIS Open Access Collection
• Hacettepe University Affiliated: Yes