✦ LIBER ✦

Bestrophin Gene Mutations in Patients with Best Vitelliform Macular Dystrophy

✍ Scribed by Germaine M. Caldwell; Laura E. Kakuk; Irina B. Griesinger; Stacey A. Simpson; Norma J. Nowak; Kent W. Small; Irene H. Maumenee; Philip J. Rosenfeld; Paul A. Sieving; Thomas B. Shows; Radha Ayyagari

Book ID: 115614739
Publisher: Elsevier Science
Year: 1999
Tongue: English
Weight: 48 KB
Volume: 58
Category: Article
ISSN: 0888-7543
DOI: 10.1006/geno.1999.5808

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Identification of novel VMD2 gene mutati

Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy

✍ D. Marchant; K. Gogat; S. Boutboul; M. Péquignot; C. Sternberg; P. Dureau; O. Ro 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 193 KB 👁 1 views

We report five novel VMD2 mutations in Best's macular dystrophy patients (S16F, I73N, R92H, V235L, and N296S). An SSCP analysis of the VMD2 11 exons revealed electrophoretic mobility shifts exclusively in exons 2, 3, 4, 6 and 8. Direct sequencing indicated that these shifts are caused by mono-alleli

Mutations in the VMD2 gene are associate

Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration

✍ Krämer, Franziska; White, Karen; Pauleikhoff, Daniel; Gehrig, Andrea; Passmore, 📂 Article 📅 2000 🏛 Nature Publishing Group 🌐 English ⚖ 153 KB

VMD2 mutations in vitelliform macular dy

VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies

✍ Karen White; Andreas Marquardt; Bernhard H.F. Weber 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 499 KB

Communicated by

Adult vitelliform macular dystrophy is f

Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene

✍ Ute Felbor; Harald Schilling; Bernhard H. F. Weber 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 239 KB 👁 2 views

Mutations in the peripherin/RDS gene, which encodes a photoreceptor-specific membrane glycoprotein, have been identified in a variety of retinal phenotypes. However, the mechanisms by which specific mutations in this gene can cause typical features of retinal dystrophies clinically as distinct as re

Assessment of mutations in the best macu

Assessment of mutations in the best macular dystrophy (VMD2) gene in patients with adult-onset foveomacular vitelliform dystrophy, age-related maculopathy, and bull’s-eye maculopathy

✍ Johanna M Seddon; Mehran A Afshari; Sanjay Sharma; Paul S Bernstein; Sandy Chong 📂 Article 📅 2001 🏛 Elsevier Science 🌐 English ⚖ 353 KB

EOG IN A LARGE FAMILY WITH HEREDITARY MA

EOG IN A LARGE FAMILY WITH HEREDITARY MACULAR DEGENERATION : (Best's Vitelliform Macular Dystrophy) Identification of Gene Carriers

✍ W. THORBURN; S. NORDSTRÖM 📂 Article 📅 2009 🏛 Wiley (Blackwell Publishing) 🌐 English ⚖ 376 KB