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	Provedor de dados BJMBR (1) Autor Hou,Yao (1) Li,Changxin (1) Li,Ling (1) Liu,Yan (1) Mao,Jinming (1) Wu,Xiaowei (1) Mais... Palavra-chave CADASIL-like (1) Cerebral small vessel disease (1) HTRA1 (1) SNP (1) Tipo do documento Info:eu-repo/semantics/article (1) Ano 2018 (1) País Brazil (1) Idioma Inglês (1)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 1 Primeira ... 1 ... Última Heterozygous HTRA1 missense mutation in CADASIL-like family disease BJMBR Wu,Xiaowei; Li,Changxin; Mao,Jinming; Li,Ling; Liu,Yan; Hou,Yao. 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 members were collected. At first, the known hereditary cerebral vascular genes of the pro-band were screened with direct sequencing to find candidate gene mutations. High-throughput multiplex PCR was then used to analyze the single nucleotide polymorphism of the candidate gene in the family members. The results showed that there was missense mutation of the high... Tipo: Info:eu-repo/semantics/article Palavras-chave: HTRA1; CADASIL-like; SNP; Cerebral small vessel disease. Ano: 2018 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2018000500602 Registros recuperados: 1 Primeira ... 1 ... Última

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