𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Friedreich's ataxia: a descriptive epidemiological study in an Italian population

✍ Scribed by Maurizio Leone; Francesco Brignolio; Maria Gabriella Rosso; Emilio Sergio Curtoni; Antonio Moroni; Antonella Tribolo; Davide Schiffer

Book ID
115090080
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
622 KB
Volume
38
Category
Article
ISSN
0009-9163

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Clinical and genetic study of Friedreich
Clinical and genetic study of Friedreich ataxia in an Australian population
✍ Delatycki, Martin B.; Paris, Damien B.B.P.; Gardner, R.J. McKinlay; Nicholson, G πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 47 KB πŸ‘ 2 views

Friedreich ataxia is an autosomal recessive disorder caused by mutations in the FRDA gene that encodes a 210-amino acid protein called frataxin. An expansion of a GAA trinucleotide repeat in intron 1 of the gene is present in more than 95% of mutant alleles. Of the 83 people we studied who have muta