ArticleInternational journal of ophthalmology2022
A novel mutation of
Article in International journal of ophthalmology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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8 authors at 3 institutions in 1 country.
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Abstract
aimTo identify potential mutations and elucidate the clinical findings of male patients and female carriers of X-linked retinitis pigmentosa (XLRP) in a Chinese family.
methodsA four generation pedigree was collected that consisted of 20 individuals. Genomic DNA was extracted from peripheral blood, and then the target fragments were amplified by PCR and sequenced directly. In addition, all affected patients and female carriers underwent comprehensively ophthalmic evaluation.
resultsA novel mutation c.2865G>A p.W955X in
conclusionIn this study, a novel mutation of the
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