Article
Novel COL4A1 mutations associated with HANAC syndrome: a role for the triple helical CB3[IV] domain.
American journal of medical genetics. Part A - 1 Oct 2010
Plaisier Emmanuelle, Chen Zhiyong, Gekeler Florian, Benhassine Safa, Dahan Karine, Marro Béatrice, Alamowitch Sonia, Paques Michel, Ronco Pierre
Abstract excerpt
The COL4A1 gene encodes the α1-chain of type IV collagen, which is ubiquitously expressed in basement membranes. Mutations in COL4A1 have been reported in autosomal-dominant porencephaly and in patients with symptomatic small vessel brain disease, inconstantly associated with eye defects. We have previously reported three COL4A1 mutations associated with a systemic phenotype that we called HANAC (Hereditary...
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