Novel human pathological mutations. Gene symbol: CLCN1. Disease: myotonia congenita, autosomal recessive.

Hum Genet

Universidad de Costa Rica, Instituto de Investigaciones en Salud, San Perdo de Montes de Oca, 2060, 2060 San Jose, Costa Rica.

Published: November 2007

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Source
http://dx.doi.org/10.1007/s00439-007-0411-6DOI Listing

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