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Severe Cerebral Small Vessel Disease Caused by the Uniallelic p.A252T Variant of HTRA1

OBJECTIVE: To investigate the clinical effect of a heterozygous missense variant of HTRA1 on cerebral small vessel disease (CSVD) in a large Japanese family with a p.A252T variant. METHODS: We performed clinical, laboratory, radiologic, and genetic evaluations of members of a previously reported fam...

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Detalles Bibliográficos
Autores principales:	Kondo, Yasufumi, Yoshinaga, Tsuneaki, Nakamura, Katsuya, Yamaguchi, Tomomi, Ishikawa, Masumi, Kosho, Tomoki, Sekijima, Yoshiki
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2022
Materias:	Clinical/Scientific Note
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9756387/ https://www.ncbi.nlm.nih.gov/pubmed/36530220 http://dx.doi.org/10.1212/NXG.0000000000200047

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