Novel In-Frame Deletion in HTRA1 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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Detalles Bibliográficos
Autores principales: Grigaitė, Julija, Šiaurytė, Kamilė, Audronytė, Eglė, Preikšaitienė, Eglė, Burnytė, Birutė, Pranckevičienė, Erinija, Ekkert, Aleksandra, Utkus, Algirdas, Jatužis, Dalius
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8701891/
https://www.ncbi.nlm.nih.gov/pubmed/34946904
http://dx.doi.org/10.3390/genes12121955

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8701891/
https://www.ncbi.nlm.nih.gov/pubmed/34946904
http://dx.doi.org/10.3390/genes12121955

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