Heterozygous HTRA1 missense mutation in CADASIL-like family disease

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Heterozygous HTRA1 missense mutation in CADASIL-like family disease

The aim of this study was to find related pathogenic genes in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in (CADASIL)-like patients. The direct sequencing and high-throughput multiplex polymerase chain reaction (PCR) was performed to screen for related genes. The clinical and imaging data of a CADASIL-like patient (the pro-band) and his family mem...

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ژورنال

عنوان ژورنال: Brazilian Journal of Medical and Biological Research

سال: 2018

ISSN: 1414-431X,0100-879X

DOI: 10.1590/1414-431x20176632