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A novel heterozygous HTRA1 mutation is associated with autosomal dominant hereditary cerebral small vessel disease

BACKGROUND: We investigated whether a heterozygous mutation that we newly identified in HTRA1 (high‐temperature requirement serine protease A1 gene) in a pedigree with autosomal dominant hereditary cerebral small vessel disease (SVD) reduces the function of HTRA1 and affects the transforming growth...

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Detalles Bibliográficos
Autores principales: Zhuo, Zhong‐ling, Cong, Lu, Zhang, Jun, Zhao, Xiao‐tao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7284040/
https://www.ncbi.nlm.nih.gov/pubmed/32239807
http://dx.doi.org/10.1002/mgg3.1111