Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency

De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen α2 Chain Cause Porencephaly

(2011) Yuriko Yoneda et al.   AMERICAN JOURNAL OF HUMAN GENETICS

COL4A2 Mutations Impair COL4A1 and COL4A2 Secretion and Cause Hemorrhagic Stroke

(2011) Marion Jeanne et al.   AMERICAN JOURNAL OF HUMAN GENETICS

COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage

(2011) Yi-Chinn Weng et al.   ANNALS OF NEUROLOGY

Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly

(2011) M. E. C. Meuwissen et al.   NEUROLOGY

COL4A1 Mutations Cause Ocular Dysgenesis, Neuronal Localization Defects, and Myopathy in Mice and Walker-Warburg Syndrome in Humans

(2011) Cassandre Labelle-Dumais et al.   PLoS Genetics

Novel COL4A1 mutations associated with HANAC syndrome: A role for the triple helical CB3[IV] domain

(2010) Emmanuelle Plaisier et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage

(2009) Linda S. de Vries et al.   ANNALS OF NEUROLOGY

A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly

(2009) Siddharth Shah et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

COL4A1 Mutation in Preterm Intraventricular Hemorrhage

(2009) Kaya Bilguvar et al.   JOURNAL OF PEDIATRICS

Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome

(2009) S. Alamowitch et al.   NEUROLOGY

Lack of association between variants in theVKORC1gene and cerebrovascular or coronary heart disease

(2008) R. LEMMENS et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Type IV collagens regulate BMP signalling in Drosophila

(2008) Xiaomeng Wang et al.   NATURE