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Missense mutation A346P in the rhodopsin gene in one family with autosomal dominant retinitis pigmentosa

✍ Scribed by Salud Borrego; Beatriz Sánchez; Agustín Ruiz; Guillermo Antiñolo


Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
216 KB
Volume
7
Category
Article
ISSN
1059-7794

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✍ Eyal Banin; Liliana Mizrahi-Meissonnier; Ruhama Neis; Shira Silverstein; István 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 195 KB 👁 2 views

## Abstract Most X‐linked diseases show a recessive pattern of inheritance in which female carriers are unaffected. In X‐linked retinitis pigmentosa (XLRP), however, both recessive and semi‐dominant inheritance patterns have been reported. We identified an Israeli family with semi‐dominant XLRP due