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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...
Kaydedildi:
| Yayımlandı: | Mol Genet Genomic Med |
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| Asıl Yazarlar: | , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
John Wiley and Sons Inc.
2020
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7284040/ https://ncbi.nlm.nih.gov/pubmed/32239807 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1111 |
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