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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2020
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| 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 |