Title : Mutations in the uromodulin gene decrease urinary excretion of Tamm-Horsfall protein.

Pub. Date : 2004 Sep

PMID : 15327389






3 Functional Relationships(s)
Download
Sentence
Compound Name
Protein Name
Organism
1 RESULTS: The 16 individuals carrying the deletion mutation excreted 5.8 +/- 6.3 mg THP/g creatinine into their urine. Creatinine uromodulin Homo sapiens
2 The 18 unaffected relatives from the same family excreted 40.8 +/- 9.7 mg THP/g creatinine (P < 0.0001) and the four spouses excreted 43.9 +/- 25.1 mg THP/g creatinine (P < 0.0001 vs. individuals with the deletion mutation). Creatinine uromodulin Homo sapiens
3 THP excretion of seven individuals with other UMOD gene mutations was also extremely low (range of 0.14 to 5.9 mg THP/g creatinine). Creatinine uromodulin Homo sapiens