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

Authors :: Khaleeli Z
Jaunmuktane Z
Beaufort N
Houlden H
Haffner C
Brandner S
Dichgans M
Werring D
Source :: Journal of neurology [J Neurol] 2015 May; Vol. 262 (5), pp. 1369-72. Date of Electronic Publication: 2015 May 10.
Publication Year :: 2015

Subjects :: Adult
Female
High-Temperature Requirement A Serine Peptidase 1
Humans
Magnetic Resonance Imaging
Pakistan
Alopecia diagnosis
Alopecia genetics
Cerebral Infarction diagnosis
Cerebral Infarction genetics
Exons genetics
Leukoencephalopathies diagnosis
Leukoencephalopathies genetics
Mutation genetics
Peptide Hydrolases metabolism
Serine Endopeptidases genetics
Spinal Diseases diagnosis
Spinal Diseases genetics

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