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...

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Prif Awduron:	Yar Muhammad Waryah, Feriha Fatima Khidri, Amir Ansari, Samia Mehmood, Sumera Abbasi, Shabahat Memon
Fformat:	Artigo
Iaith:	Inglês
Cyhoeddwyd:	Liaquat University of Medical and Health Sciences 2024-09-01
Cyfres:	JLUMHS
Pynciau:	clcc1 gene night blindness endogamous pedigree genetic counseling sanger sequencing phenotype-genotype correlation
Tagiau:	Ychwanegu Tag Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!