๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Long-term follow-up of a family with dominant X-linked retinitis pigmentosa

โœ Scribed by Wu, D M; Khanna, H; Atmaca-Sonmez, P; Sieving, P A; Branham, K; Othman, M; Swaroop, A; Daiger, S P; Heckenlively, J R


Book ID
109852384
Publisher
Nature Publishing Group
Year
2009
Tongue
English
Weight
886 KB
Volume
24
Category
Article
ISSN
0950-222X

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


A family with RP3 type of X-linked retin
โœ Dieuwke B. Dorp; Alan F. Wright; Andrew D. Carothers; Elizabeth M. Bleeker-Wagem ๐Ÿ“‚ Article ๐Ÿ“… 1992 ๐Ÿ› Springer ๐ŸŒ English โš– 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

A non-ancestral RPGR missense mutation i
โœ Eyal Banin; Liliana Mizrahi-Meissonnier; Ruhama Neis; Shira Silverstein; Istvรกn ๐Ÿ“‚ Article ๐Ÿ“… 2007 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 195 KB ๐Ÿ‘ 2 views

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