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Gitelman syndrome due to p.A204T mutation in CLCNKB gene

✍ Scribed by R. Enríquez; V. Adam; A. E. Sirvent; A. B. García-García; I. Millán; F. Amorós


Book ID
106555586
Publisher
Springer Netherlands
Year
2010
Tongue
English
Weight
197 KB
Volume
42
Category
Article
ISSN
0301-1623

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## Abstract Recently, it has been reported that longer expansions of the polyalanine tract of the __ARX__ gene could cause an early infantile encephalopathy with suppression burst pattern and that the length of this repeat region could be related to the severity of the electroclinical picture. We d