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Atypical hemolytic uremic syndrome and mutation analysis of factor H gene in two Tunisian families

We carried out a protein and genetic investigation of the factor H gene mutations within two families presenting with a diagnostic suspicion of atypical hemolytic uremic syndrome (aHUS). The results within the patients of the first family revealed a factor H-deficiency. Direct sequencing allowed the...

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Hlavní autoři: Habibi, Imen, Sfar, Imen, Ben Alaya, Walid, Methlouthi, Jihen, Ayadi, Abdelkrim, Brahim, Mounira, Blouin, Jacques, Dhagbouj, Raoudha, Ben Rhomdhane, Thouraya, Makhlouf, Mouna, Aouadi, Houda, Ayed-Jendoubi, Saloua, Fremeaux-bacchi, Véronique, Sfar, Tahar, Ben Abdallah, Taieb, Ayed, Khaled, Gorgi, Yousr
Médium: Artigo
Jazyk:Inglês
Vydáno: Dove Medical Press 2010
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3108774/
https://ncbi.nlm.nih.gov/pubmed/21694933
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