Novel In-Frame Deletion in <i>HTRA1</i> Gene, Responsible for Stroke at a Young Age and Dementia—A Case Study

Novel In-Frame Deletion in <i>HTRA1</i> Gene, Responsible for Stroke at a Young Age and Dementia—A Case Study

Biallelic mutations in the high-temperature requirement A serine peptidase 1 (HTRA1) gene are known to cause an extremely rare cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), which belongs to the group of hereditary cerebral small vessel disease...

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Bibliographic Details
Main Authors: Julija Grigaitė, Kamilė Šiaurytė, Eglė Audronytė, Eglė Preikšaitienė, Birutė Burnytė, Erinija Pranckevičienė, Aleksandra Ekkert, Algirdas Utkus, Dalius Jatužis
Format: Article
Language:English
Published: MDPI AG 2021-12-01
Series:Genes
Subjects:
HTRA1
heterozygous HTRA1 gene mutation
cerebral small vessel disease
CARASIL
next generation sequencing
Online Access:https://www.mdpi.com/2073-4425/12/12/1955

Internet

https://www.mdpi.com/2073-4425/12/12/1955

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