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注意：仅列出部分参考文献，下载原文获取全部文献信息。SPORADIC COL4A1 MUTATIONS WITH EXTENSIVE PRENATAL PORENCEPHALY RESEMBLING HYDRANENCEPHALY
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AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
Ophthalmological Features Associated With COL4A1 Mutations
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A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly
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EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2010)
COL4A1 Mutations as a Monogenic Cause of Cerebral Small Vessel Disease A Systematic Review
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COL4A1 Mutation in Two Preterm Siblings with Antenatal Onset of Parenchymal Hemorrhage
Linda S. de Vries et al.
ANNALS OF NEUROLOGY (2009)
COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps
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NEW ENGLAND JOURNAL OF MEDICINE (2007)
Clinical and brain MRI follow-up study of a family with COL4A1 mutation
K. Vahedi et al.
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COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke
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COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage
Katayoun Vahedi et al.
STROKE (2007)
Role of COL4A1 in small-vessel disease and hemorrhagic stroke
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NEW ENGLAND JOURNAL OF MEDICINE (2006)
Neonatal porencephaly and adult stroke related to mutations in collagen IV A1
MS van der Knaap et al.
ANNALS OF NEUROLOGY (2006)
Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly
G. Breedveld et al.
JOURNAL OF MEDICAL GENETICS (2006)
Dominant mutations of Col4a1 result in basement membrane defects which lead to anterior segment dysgenesis and glomerulopathy
T Van Agtmael et al.
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Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly
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SCIENCE (2005)
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