COL4A2 mutation causing adult onset recurrent intracerebral hemorrhage and leukoencephalopathy

COL4A2 mutation associated with familial porencephaly and small-vessel disease

(2012) Elly Verbeek et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets

(2012) D. S. Kuo et al.   HUMAN MOLECULAR GENETICS

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

Ophthalmological Features Associated With COL4A1 Mutations

(2010) Isabelle Coupry   ARCHIVES OF OPHTHALMOLOGY

Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease

(2010) Katayoun Vahedi et al.   CURRENT OPINION IN NEUROLOGY

COL4A1 Mutations as a Monogenic Cause of Cerebral Small Vessel Disease

(2010) Silvia Lanfranconi et al.   STROKE