𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Allelic homogeneity in Avellino corneal dystrophy due to a founder effect

✍ Scribed by Kaoru Tsujikawa; Motokazu Tsujikawa; Hitoshi Watanabe; Naoyuki Maeda; Yoshitsugu Inoue; Takashi Fujikado; Yasuo Tano

Book ID
106252075
Publisher
Nature Publishing Group
Year
2006
Tongue
English
Weight
229 KB
Volume
52
Category
Article
ISSN
1435-232X

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Allelic homogeneity due to a founder mut
Allelic homogeneity due to a founder mutation in Japanese patients with lattice corneal dystrophy type IIIA
✍ Tsujikawa, Kaoru ;Tsujikawa, Motokazu ;Yamamoto, Shuji ;Fujikado, Takashi ;Tano, 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 131 KB 👁 2 views

## Abstract Lattice corneal dystrophies (LCDs) are caused by mutations of the transforming growth factor beta‐induced gene (__TGFBI__, formerly __βig‐h3__). LCD type IIIA (LCDIIIA) has been reported mostly from Japan. In this study, we demonstrate allelic homogeneity for Japanese patients with LCDI

Parkinson's disease due to the R1441G mu
Parkinson's disease due to the R1441G mutation in Dardarin: A founder effect in the basques
✍ Javier Simón-Sánchez; José-Félix Martí-Massó; José Vicente Sánchez-Mut; Coro Pai 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 128 KB

## Abstract The recent discovery of mutations in Dardarin (__LRRK2__) have been related to the appearance of Parkinson's disease in several families. Notably, one single mutation in this gene (R1441G) not only appeared in familial, but also in apparently sporadic Parkinson disease (PD) patients of