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Article

Heterozygous HTRA1 missense mutation in CADASIL-like family disease.

Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas - 15 Mar 2018

Wu Xiaowei, Li Changxin, Mao Jinming, Li Ling, Liu Yan, Hou Yao

Abstract excerpt

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...

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Share to CADASIL
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to High-Temperature Requirement A Serine Peptidase 1

Share to Multiplex Polymerase Chain Reaction

Share to Mutation, Missense

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Share to Polymorphism, Single Nucleotide

Source

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Identifiers

PMID: 29561953
DOI: 10.1590/1414-431X20176632
PMCID: PMC5875909

Genes

HTRA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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