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Report of two pedigrees with heterozygous HTRA1 variants‐related cerebral small vessel disease and literature review
BACKGROUND: Biallelic HTRA1 pathogenic variants are associated with autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL). Recent studies have indicated that heterozygous HTRA1 variants are related to autosomal dominant hereditary cerebral small vessel...
Autores principales: | Zhou, Hui, Jiao, Bin, Ouyang, Ziyu, Wu, Qihui, Shen, Lu, Fang, Liangjuan |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9544214/ https://www.ncbi.nlm.nih.gov/pubmed/35946346 http://dx.doi.org/10.1002/mgg3.2032 |
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