𝔖 Bobbio Scriptorium
✦   LIBER   ✦

ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies

✍ Scribed by Kitiratschky, Veronique B D; Grau, Tanja; Bernd, Antje; Zrenner, Eberhart; Jägle, Herbert; Renner, Agnes B; Kellner, Ulrich; Rudolph, Günther; Jacobson, Samuel G; Cideciyan, Artur V


Book ID
109848829
Publisher
Nature Publishing Group
Year
2008
Tongue
English
Weight
136 KB
Volume
16
Category
Article
ISSN
1018-4813

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Spectrum of ABCA4 (ABCR) gene mutations
✍ Eva Paloma; Amalia Martínez-Mir; Lluïsa Vilageliu; Roser Gonzàlez-Duarte; Susana 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 237 KB 👁 1 views

The ABCA4 gene has been involved in several forms of inherited macular dystrophy. In order to further characterize the complex genotype-phenotype relationships involving this gene, we have performed a mutation analysis of ABCA4 in 14 Spanish patients comprising eight STGD (Stargardt), four FFM (fund

EYS is a major gene for rod-cone dystrop
✍ Isabelle Audo; José-Alain Sahel; Saddek Mohand-Saïd; Marie-Elise Lancelot; Aline 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 472 KB

Autosomal-recessive retinitis pigmentosa (arRP) was recently associated with mutations in a novel gene EYS, spanning over 2 Mb, making it the largest known gene expressed in the human eye. The purpose of this study was to establish the prevalence and nature of EYS mutations in a clinically well-char

Large deletions of the KCNV2 gene are co
✍ Bernd Wissinger; Simone Schaich; Britta Baumann; Michael Bonin; Herbert Jägle; C 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 437 KB 👁 1 views

Cone dystrophy with supernormal rod response (CDSRR) is considered to be a very rare autosomal recessive retinal disorder. CDSRR is associated with mutations in KCNV2, a gene that encodes a modulatory subunit (Kv8.2) of a voltage-gated potassium channel. In this study, we found that KCNV2 mutations