Article
The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2015
Meuwissen Marije E C, Halley Dicky J J, Smit Liesbeth S, Lequin Maarten H, Cobben Jan M, de Coo René, van Harssel Jeske, Sallevelt Suzanne, Woldringh Gwendolyn, van der Knaap Marjo S, de Vries Linda S, Mancini Grazia M S
Abstract excerpt
Two proα1(IV) chains, encoded by COL4A1, form trimers that contain, in addition, a proα2(IV) chain encoded by COL4A2 and are the major component of the basement membrane in many tissues. Since 2005, COL4A1 mutations have been known as an autosomal dominant cause of hereditary porencephaly. COL4A1 and COL4A2 mutations have been reported with a broader spectrum of cerebrovascular, renal, ophthalmological, cardiac,...
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