✦ LIBER ✦

Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy

✍ Scribed by Thompson, Debra A.; Li, Yun; McHenry, Christina L.; Carlson, Thomas J.; Ding, Xiaoling; Sieving, Paul A.; Apfelstedt-Sylla, Eckart; Gal, Andreas

Book ID: 109831718
Publisher: Nature Publishing Group
Year: 2001
Tongue: English
Weight: 883 KB
Volume: 28
Category: Article
ISSN: 1061-4036
DOI: 10.1038/88828

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutations in C8orf37, Encoding a Ciliary

Mutations in C8orf37, Encoding a Ciliary Protein, are Associated with Autosomal-Recessive Retinal Dystrophies with Early Macular Involvement

✍ Alejandro Estrada-Cuzcano; Kornelia Neveling; Susanne Kohl; Eyal Banin; Ygal Rot 📂 Article 📅 2012 🏛 American Society of Human Genetics 🌐 English ⚖ 867 KB

Lack of fundus autofluorescence to 488 n

Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65

✍ Birgit Lorenz; Bettina Wabbels; Erika Wegscheider; Christian P Hamel; Wolfgang D 📂 Article 📅 2004 🏛 Elsevier Science 🌐 English ⚖ 633 KB

Missense mutations in the TGM2 gene enco

Missense mutations in the TGM2 gene encoding transglutaminase 2 are found in patients with early-onset type 2 diabetes

✍ O. Porzio; O. Massa; V. Cunsolo; C. Colombo; M. Malaponti; F. Bertuzzi; T. Hanse 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 310 KB

Transglutaminase 2 (TG2 or TGM2) is a multi-functional enzyme which catalyzes transamidation reactions or acts as a G-protein in intracellular signalling. Tgm2 -/-Mice lacking TG2 activity are glucose intolerant and show impairment of insulin secretion, suggesting an important physiological role for

Prevalent and Low-Frequency Null Mutatio

Prevalent and Low-Frequency Null Mutations in the Filaggrin Gene Are Associated with Early-Onset and Persistent Atopic Eczema

✍ Brown, Sara J; Sandilands, Aileen; Zhao, Yiwei; Liao, Haihui; Relton, Caroline L 📂 Article 📅 2008 🏛 Nature Publishing Group 🌐 English ⚖ 82 KB

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

The G20210A prothrombin-gene mutation an

The G20210A prothrombin-gene mutation and the plasminogen activator inhibitor (PAI-1) 5G/5G genotype are associated with early onset of severe preeclampsia

✍ A. GERHARDT; T. W. GOECKE; M. W. BECKMANN; K. J. WAGNER; B. TUTSCHEK; R. WILLERS 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 110 KB