A Frameshift Mutation in HTRA1 Expands CARASIL Syndrome and Peripheral Small Arterial Disease to the Chinese Population
March 2015
in “
Neurological Sciences
”
Studysummary This study reports that a novel frameshift mutation in the HTRA1 gene in a CARASIL pedigree led to reduced HTRA1 protein and increased TGF-β1 expression, potentially causing severe CARASIL and peripheral small arterial disease.
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