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collagen type IV a-4 gene

 

Definition: a mutation of this gene is responsible for some cases of Alport syndrome; located on 2q36–37; gene encodes protein components of the glomerular basement membrane in the kidney and of the basilar membrane, spinal ligament, and stria vascularis of the cochlea.

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.

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