✦ LIBER ✦

A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease–like 2

✍ Scribed by Holmes, Susan E.; O'Hearn, Elizabeth; Rosenblatt, Adam; Callahan, Colleen; Hwang, Hyon S.; Ingersoll-Ashworth, Roxann G.; Fleisher, Adam; Stevanin, Giovanni; Brice, Alexis; Potter, Nicholas T.; Ross, Christopher A.; Margolis, Russell L.

Book ID: 109919675
Publisher: Nature Publishing Group
Year: 2001
Tongue: English
Weight: 584 KB
Volume: 29
Category: Article
ISSN: 1061-4036
DOI: 10.1038/ng760

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

correction: A CTG trinucleotide repeat e

correction: A CTG trinucleotide repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease–like 2

📂 Article 📅 2002 🏛 Nature Publishing Group 🌐 English ⚖ 95 KB

Trinucleotide repeat expansions in the j

Trinucleotide repeat expansions in the junctophilin-3 gene are not found in caucasian patients with a huntington's disease-like phenotype

✍ Ingrid Bauer; Martin Gencik; Franco Laccone; Hartmut Peters; Bernhard H. F. Webe 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 60 KB 👁 2 views

A polymorphism in the YWHAH gene encodin

A polymorphism in the YWHAH gene encoding 14-3-3 eta that is not associated with sporadic Creutzfeldt–Jakob disease (CJD)

✍ Jisuk Yun; Byung-Hoon Jeong; Hae-Jung Kim; Young-Jae Park; Yun-Jung Lee; Eun-Kyo 📂 Article 📅 2011 🏛 Springer 🌐 English ⚖ 202 KB

Single nucleotide polymorphisms in the g

Single nucleotide polymorphisms in the gene encoding Krüppel-like factor 7 are associated with type 2 diabetes

✍ A. Kanazawa; Y. Kawamura; A. Sekine; A. Iida; T. Tsunoda; A. Kashiwagi; Y. Tanak 📂 Article 📅 2005 🏛 Springer 🌐 English ⚖ 282 KB

A common variant in the patatin-like pho

A common variant in the patatin-like phospholipase 3 gene (PNPLA3) is associated with fatty liver disease in obese children and adolescents

✍ Nicola Santoro; Romy Kursawe; Ebe D'Adamo; Daniel J. Dykas; Clarence K. Zhang; A 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 516 KB

The genetic factors associated with susceptibility to nonalcoholic fatty liver disease (NAFLD) in pediatric obesity remain largely unknown. Recently, a nonsynonymous single-nucleotide polymorphism (rs738409), in the patatin-like phospholipase 3 gene (PNPLA3) has been associated with hepatic steatosi

ASau3A polymorphism in the 5′ end of the

ASau3A polymorphism in the 5′ end of the IT15 gene that nonrandomly segregates with the Huntington disease trinucleotide expansion

✍ Leon Carlock; Kristin Gutridge; Trieu Vo 📂 Article 📅 1994 🏛 Springer 🌐 English ⚖ 424 KB

Genomic clones encompassing the Huntington disease (HD) mutation were used to isolate a probe that detects size changes in the restriction fragments that contain the HD trinucleotide repeat (TNR). This probe also detects a frequent Sau3A polymorphism (allele sizes 1.8kb and 2.7kb), which maps approx