Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria

Primary hyperoxaluria (PH) is a rare autosomal recessive disease characterized by oxalate accumulation in the kidneys and other organs. Three loci have been identified: AGXT (PH1), GRHPR (PH2), and HOGA1 (PH3). Here, we compared genotype to phenotype in 355 patients in the Rare Kidney Stone Consorti...

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Detalhes bibliográficos
Publicado no:J Am Soc Nephrol
Main Authors: Hopp, Katharina, Cogal, Andrea G., Bergstralh, Eric J., Seide, Barbara M., Olson, Julie B., Meek, Alicia M., Lieske, John C., Milliner, Dawn S., Harris, Peter C.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Nephrology 2015
Assuntos:
Clinical Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4587693/
https://ncbi.nlm.nih.gov/pubmed/25644115
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2014070698
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