✦ LIBER ✦

Mutations of RPGR in X-linked retinitis pigmentosa (RP3)

✍ Scribed by Raf Vervoort; Alan F. Wright

Publisher: John Wiley and Sons
Year: 2002
Tongue: English
Weight: 602 KB
Volume: 19
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.10057

No coin nor oath required. For personal study only.

✦ Synopsis

Communicated by

📜 SIMILAR VOLUMES

Identification of a 5′ splice site mutat

Identification of a 5′ splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3)

✍ Katherine L. Dry; Forbes D.C. Manson; Alan Lennon; Arthur A.B. Bergen; Dieuwke B 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 332 KB 👁 2 views

Communicated by

Five novel RPGR mutations in families wi

Five novel RPGR mutations in families with X-linked retinitis pigmentosa

✍ 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

A non-ancestral RPGR missense mutation in families with either recessive or semi-dominant X-linked retinitis pigmentosa

✍ 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

Ten novel ORF15 mutations confirm mutati

Ten novel ORF15 mutations confirm mutational hot spot in the RPGR gene in European patients with X-linked retinitis pigmentosa

✍ Carsten M. Pusch; Martina Broghammer; Bernhard Jurklies; Dorothea Besch; Felix K 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 96 KB

RGPR was the first gene found to be mutated in XLRP, the subtype of RP displaying the most severe form of retinal degeneration with partial or complete blindness in the third or fourth decade of life. Despite the RP3 locus on Xp21.1 accounting for 60-90% of XLRP, only 10-20% of identified RPGR mutat

Linkage studies in X-linked retinitis pi

Linkage studies in X-linked retinitis pigmentosa

✍ Gr�tzner, Peter ;Sanger, Ruth ;Spivey, Bruce E. 📂 Article 📅 1972 🏛 Springer-Verlag ⚖ 246 KB

A family with RP3 type of X-linked retin

A family with RP3 type of X-linked retinitis pigmentosa: an association with ciliary abnormalities

✍ Dieuwke B. Dorp; Alan F. Wright; Andrew D. Carothers; Elizabeth M. Bleeker-Wagem 📂 Article 📅 1992 🏛 Springer 🌐 English ⚖ 446 KB

The results of linkage analysis in a family with X-linked retinitis pigmentosa (XLRP) are presented. Probe M27B (DXS255), localised to Xpll.22, was only loosely linked to XLRP, whereas pHOC3 (OTC), in the more distal Xp21.1 region, was tightly linked. In this family, the conditional probability of a