## Communicated by Michael Dean Primary vesicoureteral reflux (pVUR) is a common, genetically heterogeneous congenital urinary tract abnormality in children. It causes urine to flow backward from the bladder to the ureter due to a developmental defect at the vesicoureteral junction, whose formatio
THE Gly691Ser MUTATION IN RET IS ASSOCIATED WITH PRIMARY VESICOURETERAL REFLUX IN THE FRENCH- CANADIAN POPULATION IN QUEBEC
β Scribed by Yang, Yaoming; Houle, Anne-Marie; Letendre, Julien; Richter, Andrea
- Book ID
- 122520537
- Publisher
- Lippincott Williams and Wilkins
- Year
- 2008
- Tongue
- English
- Weight
- 125 KB
- Volume
- 179
- Category
- Article
- ISSN
- 0022-5347
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The p.Gly691Ser variant of the RET protein, resulting from the 'A' allele of the SNP rs1799939 in exon 11 of the RET gene, was recently found to be present in a high proportion of primary vesicoureteric reflux (pVUR) patients in Quebec. We have determined the genotype of this SNP in 221 unrelated in
Mutations in the lipoprotein lipase (LPL) gene, leading to partial or total inactivation of the enzyme, result in a hereditary clinical syndrome called familial LPL deficiency. The French Canadian population, which is primarily and historically located in the province of QuΓ©bec, has the highest worl