Selected AGXT gene mutations analysis provides a genetic diagnosis in 28% of Tunisian patients with primary hyperoxaluria

BACKGROUND: Primary hyperoxaluria type I (PH1) is a rare genetic disorder characterized by allelic and clinical heterogeneity. Four mutations (G170R, 33_34insC, I244T and F152I) account for more than 50% of PH1 alleles and form the basis for diagnostic genetic screening for PH1. We aimed to analyze...

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Hlavní autoři: Mbarek, Ibtihel Benhaj, Abroug, Saoussen, Omezzine, Asma, Zellama, Dorsaf, Achour, Abdellatif, Harbi, Abdelaziz, Bouslama, Ali
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2011
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3123632/
https://ncbi.nlm.nih.gov/pubmed/21612638
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2369-12-25
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