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Main features of COL4A1-COL4A2 related cerebral microangiopathies

1 Jan 2022

Abstract excerpt

COL4A1 and COL4A2 genes encode the alpha1 and the alpha2 chains of type IV collagen, a key component of basement membranes. Mutations located in the coding sequence of COL4A1/COL4A2 genes are responsible for an autosomal dominant (AD) cerebral angiopathy that manifest in either adults, children or fetuses. The most typical among such mutations are missense glycine mutations in the triple helix. They increase the...

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PMID: 36324412
DOI: 10.1016/j.cccb.2022.100140

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