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Novel mutations of the CLCN5 gene including a complex allele and A 5′ UTR mutation in Dent disease 1

✍ Scribed by E Tosetto; M Ceol; F Mezzabotta; A Ammenti; L Peruzzi; MR Caruso; G Barbano; G Vezzoli; G Colussi; G Vergine; M Giordano; N Glorioso; S Degortes; L Soldati; J Sayer; A D'Angelo; F Anglani

Book ID
110888825
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
526 KB
Volume
76
Category
Article
ISSN
0009-9163

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A large cohort of myotonia congenita pro
A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene
✍ Brugnoni, Raffaella; Kapetis, Dimos; Imbrici, Paola; Pessia, Mauro; Canioni, Ele 📂 Article 📅 2013 🏛 Nature Publishing Group 🌐 English ⚖ 847 KB

Myotonia congenita is a genetic disease characterized by impaired muscle relaxation after forceful contraction (myotonia) and caused by mutations in the chloride channel voltage-sensitive 1 (CLCN1) gene, encoding the voltage-gated chloride channel of skeletal muscle (ClC-1). In a large cohort of cli