期刊
NEW ENGLAND JOURNAL OF MEDICINE
卷 354, 期 14, 页码 1489-1496出版社
MASSACHUSETTS MEDICAL SOC
DOI: 10.1056/NEJMoa053727
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资金
- NCI NIH HHS [CA34196] Funding Source: Medline
- NEI NIH HHS [EY117211] Funding Source: Medline
- NIDDK NIH HHS [DK064687] Funding Source: Medline
Small-vessel diseases of the brain underlie 20 to 30 percent of ischemic strokes and a larger proportion of intracerebral hemorrhages. In this report, we show that a mutation in the mouse Col4a1 gene, encoding procollagen type IV alpha l, predisposes both newborn and adult mice to intracerebral hemorrhage. Surgical delivery of mutant mice alleviated birth-associated trauma and hemorrhage. We identified a COL4A1 mutation in a human family with small-vessel disease. We concluded that mutation of COL4A1 may cause a spectrum of cerebrovascular phenotypes and that persons with COL4A1 mutations may be predisposed to hemorrhage, especially after environmental stress.
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