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Article

A novel HTRA1 exon 2 mutation causes loss of protease activity in a Pakistani CARASIL patient.

Journal of neurology - 1 May 2015

Khaleeli Zhaleh, Jaunmuktane Zane, Beaufort Nathalie, Houlden Henry, Haffner Christof, Brandner Sebastian, Dichgans Martin, Werring David

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25957642
DOI: 10.1007/s00415-015-7769-5

Genes

HTRA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

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A novel HTRA1 exon 2 mutation causes loss of protease activity in a Pakistani CARASIL patient.PMID 25957642Read ↗

Two novel HTRA1 mutations in a European CARASIL patient.Semantic proximity Read ↗

CARASIL families from India with 3 novel null mutations in the HTRA1 gene.Semantic proximity Read ↗

A missense <i>HTRA1</i> mutation expands CARASIL syndrome to the Caucasian populationSemantic proximity Read ↗

A novel mutation in the HTRA1 gene identified in Chinese CARASIL pedigree.Semantic proximity Read ↗

A CARASIL Patient from Americas with Novel Mutation and Atypical Features: Case Presentation and Literature Review.Semantic proximity Read ↗

A Chinese CARASIL Patient Caused by Novel Compound Heterozygous Mutations in HTRA1.Semantic proximity Read ↗

Genetically Confirmed CARASIL: Case Report with Novel HTRA1 Mutation and Literature Review.Semantic proximity Read ↗

Distinct molecular mechanisms of <i>HTRA1</i> mutants in manifesting heterozygotes with CARASILSemantic proximity Read ↗

Genetically proxied HTRA1 protease activity and circulating levels independently predict risk of ischemic stroke and coronary artery diseaseSemantic proximity Read ↗

The mitochondrial serine protease HtrA2/Omi: an overviewSemantic proximity Read ↗

Late adulthood onset DYT-THAP1 secondary to a novel splice site mutation-A report from India.Semantic proximity Read ↗

Genetically proxied HTRA1 protease activity and circulating levels independently predict risk of ischemic stroke and coronary artery disease.Semantic proximity Read ↗

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