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A human induced pluripotent stem cell model from a patient with hereditary cerebral small vessel disease carrying a heterozygous R302Q mutation in HTRA1

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is an inherited cerebral small vessel disease (CSVD) caused by biallelic mutations in the high-temperature requirement serine peptidase A1 (HTRA1) gene. Even heterozygous mutations in HTRA1 are rece...

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Detalles Bibliográficos
Autores principales:	Qian, Emi, Uemura, Masahiro, Kobayashi, Hiroya, Nakamura, Shiho, Ozawa, Fumiko, Yoshimatsu, Sho, Ishikawa, Mitsuru, Onodera, Osamu, Morimoto, Satoru, Okano, Hideyuki
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Rapid Communication
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10069112/ https://www.ncbi.nlm.nih.gov/pubmed/37009886 http://dx.doi.org/10.1186/s41232-023-00273-7

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