Title : A novel UMOD mutation (c.187T>C) in a Korean family with juvenile hyperuricemic nephropathy.

Pub. Date : 2013 Jul

PMID : 23826568






2 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 In addition, approximately two-thirds of the known mutations lead to a cysteine amino acid change in uromodulin, and all such variants have been shown to cause UMOD-associated kidney disease. cysteine amino acid uromodulin Homo sapiens
2 In addition, approximately two-thirds of the known mutations lead to a cysteine amino acid change in uromodulin, and all such variants have been shown to cause UMOD-associated kidney disease. cysteine amino acid uromodulin Homo sapiens