title: A novel HTRA1 exon 2 mutation causes loss of protease activity in a Pakistani CARASIL patient.
authors.affiliation: National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, England, UK.
authors.forename: Zhaleh
authors.initials: Z
authors.lastname: Khaleeli
authors.forename: Zane
authors.initials: Z
authors.lastname: Jaunmuktane
authors.forename: Nathalie
authors.initials: N
authors.lastname: Beaufort
authors.forename: Henry
authors.initials: H
authors.lastname: Houlden
authors.forename: Christof
authors.initials: C
authors.lastname: Haffner
authors.forename: Sebastian
authors.initials: S
authors.lastname: Brandner
authors.forename: Martin
authors.initials: M
authors.lastname: Dichgans
authors.forename: David
authors.initials: D
authors.lastname: Werring
mesh_terms: D000328:Adult; D000505:Alopecia / Q000175:diagnosis* / Q000235:genetics*; D002544:Cerebral Infarction / Q000175:diagnosis* / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D005260:Female; D000074289:High-Temperature Requirement A Serine Peptidase 1; D006801:Humans; D056784:Leukoencephalopathies / Q000175:diagnosis* / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D009154:Mutation / Q000235:genetics*; D010154:Pakistan; D010447:Peptide Hydrolases / Q000378:metabolism*; D012697:Serine Endopeptidases / Q000235:genetics*; D013122:Spinal Diseases / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D010447:Peptide Hydrolases; D000074289:High-Temperature Requirement A Serine Peptidase 1; C474012:HTRA1 protein, human; D012697:Serine Endopeptidases