✦ LIBER ✦

Spectrum of retGC1 mutations in Leber's congenital amaurosis

✍ Scribed by Perrault, Isabelle; Rozet, Jean-Michel; Gerber, Sylvie; Ghazi, Imad; Ducroq, Dominique; Souied, Eric; Leowski, Corinne; Bonnemaison, Michèle; Dufier, Jean-Louis; Munnich, Arnold

Book ID: 110024996
Publisher: Nature Publishing Group
Year: 2000
Tongue: English
Weight: 151 KB
Volume: 8
Category: Article
ISSN: 1018-4813
DOI: 10.1038/sj.ejhg.5200503

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Different functional outcome of RetGC1 a

Different functional outcome of RetGC1 and RPE65 gene mutations in leber congenital amaurosis [5]

✍ Perrault, I. (author);Rozet, J. M. (author);Ghazi, I. (author);Leowski, C. (auth 📂 Article 📅 1999 🏛 University of Chicago Press 🌐 English ⚖ 308 KB

Different functional outcome of RetGC1 a

Different functional outcome of RetGC1 and RPE65 gene mutations in leber congenital amaurosis [5]

✍ Perrault, I. (author);Rozet, J. M. (author);Ghazi, I. (author);Leowski, C. (auth 📂 Article 📅 1999 🏛 University of Chicago Press 🌐 English ⚖ 308 KB

Mutations in RPE65 cause Leber's congeni

Mutations in RPE65 cause Leber's congenital amaurosis

✍ Marlhens, Françoise; Bareil, Corinne; Griffoin, Jean-Michel; Zrenner, Eberhart; 📂 Article 📅 1997 🏛 Nature Publishing Group 🌐 English ⚖ 459 KB

Clinical phenotypes in carriers of Leber

Clinical phenotypes in carriers of Leber congenital amaurosis mutations

✍ Jennifer A. Galvin; Gerald A. Fishman; Edwin M. Stone; Robert K. Koenekoop 📂 Article 📅 2005 🏛 Elsevier Science 🌐 English ⚖ 297 KB

Retinal–specific guanylate cyclase gene

Retinal–specific guanylate cyclase gene mutations in Leber's congenital amaurosis

✍ Perrault, Isabella; Rozet, Jean Michel; Calvas, Patrick; Gerber, Sylvie; Camuzat 📂 Article 📅 1996 🏛 Nature Publishing Group 🌐 English ⚖ 523 KB

Evidence of a founder effect for the RET

Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin

✍ Sylvain Hanein; Isabelle Perrault; Päivi Olsen; Tuija Lopponen; Marja Hietala; S 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 57 KB

Leber congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal dystrophies. It is a genetically heterogeneous condition as six disease-causing genes have been hitherto identified. Among them, RETGC1 (GUCY2D), is more frequently implicated in our series of LCA patients