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Instability of a premutation allele in homozygous patients with myotonic dystrophy type 1

✍ Scribed by Claudia Abbruzzese; Sandro Costanzi Porrini; Bruno Mariani; Fiona K. Gould; John P. Mcabney; Darren G. Monckton; Tetsuo Ashizawa; Manlio Giacanelli

Publisher
John Wiley and Sons
Year
2002
Tongue
English
Weight
356 KB
Volume
52
Category
Article
ISSN
0364-5134

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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, πŸ“‚ Article πŸ“… 2002 πŸ› John Wiley and Sons 🌐 English βš– 131 KB πŸ‘ 1 views

## Abstract Lattice corneal dystrophies (LCDs) are caused by mutations of the transforming growth factor beta‐induced gene (__TGFBI__, formerly __Ξ²ig‐h3__). LCD type IIIA (LCDIIIA) has been reported mostly from Japan. In this study, we demonstrate allelic homogeneity for Japanese patients with LCDI