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Identification of genetic defects underlying FVII deficiency in 10 patients belonging to eight unrelated families of the North provinces from Tunisia

Inherited factor VII (FVII) deficiency is a rare disorder characterized by a bleeding phenotype varying from mild to severe. To date, more than 200 mutations have been described along the F7 gene encoding for FVII. The aim of this study was the identification of genetic defects underlying FVII defic...

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Hlavní autoři: Elmahmoudi, Hejer, Ben-lakhal, Fatma, Elborji, Wijden, Jlizi, Asma, Zahra, Kaouther, Sassi, Rim, Zorgan, Moez, Meddeb, Balkis, Elgaaied Ben Ammar, Amel, Gouider, Emna
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2012
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3526404/
https://ncbi.nlm.nih.gov/pubmed/22873696
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1746-1596-7-92
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