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Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum.
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- Human Molecular Genetics, 2009, v. 18, n. 16, p. 2963, doi. 10.1093/hmg/ddp235
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- Article
Modeling study of human renal chloride channel (hCLC-5) mutations suggests a structural-functional relationship.
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- Kidney International, 2003, v. 63, n. 4, p. 1426, doi. 10.1046/j.1523-1755.2003.00859.x
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- Publication type:
- Article