Novel mutation in HTRA1 in a family with diffuse white matter lesions and inflammatory features
Neurology. Genetics
Aug 1, 2019
Amin ZiaeiMahmoud A. Pouladi
PMID: 31403081
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Abstract
To investigate the possible involvement of germline mutations in a neurologic condition involving diffuse white matter lesions. The patients were 3 siblings born to healthy parents. We performed homozygosity mapping, whole-exome sequencing, site-directed mutagenesis, and immunoblotting....read more
Mentioned in this Paper
Amnesia
Brain
Cerebral Infarction
Enzyme Stability
Immunoblotting
Magnetic Resonance Imaging
Myelitis
Spinal Cord
Mutagenesis Process
Site
14
1
3
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Novel mutation in HTRA1 in a family with diffuse white matter lesions and inflammatory features
Abstract
To investigate the possible involvement of germline mutations in a neurologic condition involving diffuse white matter lesions. The patients were 3 siblings born to healthy parents. We performed homozygosity mapping, whole-exome sequencing, site-directed mutagenesis, and immunoblotting....read more
Mentioned in this Paper
Amnesia
Brain
Cerebral Infarction
Enzyme Stability
Immunoblotting
14
1
3
Related Papers
Paper Details
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