Mutation analysis of RHO in patients with non-syndromic retinitis pigmentosa.

doi:10.1080/13816810.2023.2294843

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Article

Mutation analysis of RHO in patients with non-syndromic retinitis pigmentosa.

Ophthalmic genetics - 1 Apr 2024

Zhuang Jianfu, Zhang Rongcai, Zhou Biting, Cao Zongfu, Zhou Jie, Chen Xiaole, Zhang Nanwen, Zhu Yihua, Yang Juhua

Abstract excerpt

PURPOSE: To identify RHO mutations in patients with non-syndromic retinitis pigmentosa (NS-RP). METHODS: A total of 143 probands (46 family history and 97 sporadic cases) with NS-RP were recruited from Southeast China. The coding exons and adjacent intronic regions of RHO were PCR-amplified and sequenced by Sanger sequencing. The candidate variant was evaluated by the guidelines of American College of Medical...

Topics

Humans
Rhodopsin
Pedigree
Retinitis Pigmentosa
Mutation
Base Sequence
DNA Mutational Analysis

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Open in PubMed

Identifiers

PMID: 38284172
DOI: 10.1080/13816810.2023.2294843

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Variants

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