Article ID Journal Published Year Pages File Type
4344469 Neuroscience Letters 2012 4 Pages PDF
Abstract
► Mutations in FGF14 gene were screened in 67 unrelated Chinese Han probands with ADCA by DHPLC and DNA direct sequencing. ► We found a pair of siblings carried the same heterozygous variation (c.-10delC) characterized by different clinical features. ► A probable novel insertion/deletion (I/D) polymorphism (c.-10delC) was found. ► It suggests that SCA27 is a rare subtype in China.
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Life Sciences Neuroscience Neuroscience (General)
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