Selected <it>AGXT </it>gene mutations analysis provides a genetic diagnosis in 28% of Tunisian patients with primary hyperoxaluria
<p>Abstract</p> <p>Background</p> <p>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 dia...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2011-05-01
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| Series: | BMC Nephrology |
| Online Access: | http://www.biomedcentral.com/1471-2369/12/25 |