Autosomal dominant retinitis pigmentosa with incomplete penetrance due to an intronic mutation of the PRPF31 gene

To identify the molecular mechanisms of the development of autosomal dominant retinitis pigmentosa (adRP) with incomplete penetrance in an Israeli Muslim Arab family. Two patients with adRP underwent a detailed ophthalmic evaluation, including funduscopic examination, visual field testing, optical c...

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Veröffentlicht in:	Molecular vision 2022-10, Vol.28, p.359-368
Hauptverfasser:	Ali-Nasser, Tahleel, Zayit-Soudry, Shiri, Banin, Eyal, Sharon, Dror, Ben-Yosef, Tamar
Format:	Artikel
Sprache:	eng
Schlagworte:	Child Eye Proteins - genetics Eye Proteins - metabolism Genes, Dominant Humans Male Mutation - genetics Pedigree Retinitis Pigmentosa - diagnosis RNA Transcription Factors - genetics
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