Association of the c.75C>A Variant in CLCC1 with Autosomal Recessive Retinitis Pigmentosa in Pakistan

OBJECTIVE: To identify the disease-causing allele of retinitis pigmentosa, a heterogeneous genetic disorder in a single affected family. METHODOLOGY: A cross-sectional descriptive study was conducted at the Sindh Institute of Ophthalmology & Visual Sciences Hyderabad from December 2022 to December...

Popoln opis

Bibliografske podrobnosti

Principais autores:	Yar Muhammad Waryah, Feriha Fatima Khidri, Amir Ansari, Samia Mehmood, Sumera Abbasi, Shabahat Memon
Format:	Artigo
Jezik:	Inglês
Izdano:	Liaquat University of Medical and Health Sciences 2024-09-01
Serija:	JLUMHS
Teme:	clcc1 gene night blindness endogamous pedigree genetic counseling sanger sequencing phenotype-genotype correlation
Oznake:	Označite Brez oznak, prvi označite!