Biomechanical and compositional basement membrane defects due to a Col4a1 mutation affect cardiac morphology and function
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Collagen IV is a major constituent of basement membranes and mutations in the genes COL4A1 and COL4A2 present clinically as a variable, multi-system disorder called COL4A1 (Gould) syndrome. Evidence from case reports supports a cardiac component to this diseas... ...
