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Functional characterization of CLCN1 mutations in Taiwanese patients with myotonia congenita via heterologous expression

✍ Scribed by Min-Jon Lin; Tsai-Hong You; Huichin Pan; Kuang-Ming Hsiao


Book ID
116293916
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
209 KB
Volume
351
Category
Article
ISSN
0006-291X

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Two novel mutations of the human CLCN1 chloride channel gene, c.592C>G (p.L198V) and c.2255A>G (p.K752R), are described, occurring coincidentally in the one myotonic patient. These individual mutations and a construct with both mutations in the one cDNA were transcribed and expressed in Xenopus oocy