✦ LIBER ✦

PAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing factor

✍ Scribed by Hiroshi Maita; Hirotake Kitaura; T. Jeffrey Keen; Chris F. Inglehearn; Hiroyoshi Ariga; Sanae M.M. Iguchi-Ariga

Book ID: 118505906
Publisher: Elsevier Science
Year: 2004
Tongue: English
Weight: 876 KB
Volume: 300
Category: Article
ISSN: 0014-4827
DOI: 10.1016/j.yexcr.2004.07.029

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Evidence That the Penetrance of Mutation

Evidence That the Penetrance of Mutations at the RP11 Locus Causing Dominant Retinitis Pigmentosa Is Influenced by a Gene Linked to the Homologous RP11 Allele

✍ T.L. McGee; M. Devoto; J. Ott; E.L. Berson; T.P. Dryja 📂 Article 📅 1997 🏛 American Society of Human Genetics 🌐 English ⚖ 138 KB

Molecular recruitment as a basis for neg

Molecular recruitment as a basis for negative dominant inheritance? Propagation of misfolding in oligomers of IMPDH1, the mutated enzyme in the RP10 form of retinitis pigmentosa

✍ Xiao-tao Wang; Brian Mion; Aileen Aherne; Paul C. Engel 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 379 KB

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

Phenotypic Characterization of a Large F

Phenotypic Characterization of a Large Family With RP10 Autosomal-Dominant Retinitis Pigmentosa: An Asp226Asn Mutation in the IMPDH1 Gene

✍ Petra Kozma; Dianna K. Hughbanks-Wheaton; Kirsten G. Locke; Garry E. Fish; Anisa 📂 Article 📅 2005 🏛 Elsevier Science 🌐 English ⚖ 621 KB

A gene (RPGR) with homology to the RCC1

A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3): A. MEINDL ET AL. Nat. Genet. 13, 35–42

📂 Article 📅 1996 🏛 Elsevier Science 🌐 English ⚖ 119 KB

New mutation in the 3′-acceptor splice s

New mutation in the 3′-acceptor splice site of intron 4 in the rhodopsin gene associated with autosomal dominant retinitis pigmentosa in a Basque family

✍ Carlos Reig; Ana-Isabel Alvarez; Isabel Tejada; Manuel Molina; Esteban Aróstegui 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 238 KB 👁 2 views