𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A Novel RPGR Exon ORF15 Mutation in a Family With X-linked Retinitis Pigmentosa and Coats’-like Exudative Vasculopathy

✍ Scribed by F. Yesim K. Demirci; Brian W. Rigatti; Tammy S. Mah; Michael B. Gorin


Book ID
116200797
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
236 KB
Volume
141
Category
Article
ISSN
0002-9394

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Three novel mutations of theRPGR gene ex
✍ Yokoyama, Akiko ;Maruiwa, Futoshi ;Hayakawa, Mutsuko ;Kanai, Atsushi ;Vervoort, 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 257 KB 👁 2 views

We describe three new mutations in a recently identi®ed exon, ORF15, of the retinitis pigmentosa GTPase regulator gene (RPGR) in three unrelated Japanese families (Families 1±3) with X-linked retinitis pigmentosa (XLRP). The affected males had typical retinitis pigmentosa (RP), whereas the obligate

Five novel RPGR mutations in families wi
✍ Maria Guevara-Fujita; Stacey Fahrner; Kinga Buraczynska; Jason Cook; Dianna Whea 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 24 KB 👁 2 views

X-linked forms of retinitis pigmentosa (XLRP) are among the most severe because of their early onset, often leading to significant visual impairment before the fourth decade. RP3, genetically localized at Xp21.1, accounts for 70% of XLRP in different populations. The RPGR (Retinitis Pigmentosa GTPas

A non-ancestral RPGR missense mutation i
✍ 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