COL4A1Mutations and Hereditary Angiopathy, Nephropathy, Aneurysms, and Muscle Cramps
- 27 December 2007
- journal article
- research article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 357 (26), 2687-2695
- https://doi.org/10.1056/nejmoa071906
Abstract
COL4A3, COL4A4, and COL4A5 are the only collagen genes that have been implicated in inherited nephropathies in humans. However, the causative genes for a number of hereditary multicystic kidney diseases, myopathies with cramps, and heritable intracranial aneurysms remain unknown.Keywords
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