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Novel mutation in HTRA1 in a family with diffuse white matter lesions and inflammatory features

Neurology. Genetics

Aug 1, 2019

Amin ZiaeiMahmoud A. Pouladi

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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

Neurology. Genetics

Aug 1, 2019

Amin ZiaeiMahmoud A. Pouladi

PMID: 31403081

DOI: 10.1212/nxg.0000000000000345

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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