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Structure: Internal structure identifier : 502500

High frequency of W1327X mutation in glycogen storage disease type III patients from central Tunisia

Wafa Cherif , Faten Ben Rhouma , Habib Messai , Amira Mili , Moez Gribaa , et al.
Annales de Biologie Clinique, 2012, 70 (6), pp.648-650. ⟨10.1684/abc.2012.0766⟩
Journal articles pasteur-01375145v1

Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases

Francesca Conti , Saul Oswaldo Lugo-Reyes , Lizbeth Blancas Galicia , Jianxin He , Guzide G Aksu , et al.
Journal of Allergy and Clinical Immunology, 2016, 138 (1), pp.241 - 248.e3. ⟨10.1016/j.jaci.2015.11.041⟩
Journal articles pasteur-01466079v1

Molecular Investigation of Distal Renal Tubular Acidosis in Tunisia, Evidence for Founder Mutations

Majdi Nagara , Konstantinos Voskarides , Sonia Nouira , Nizar Ben Halim , Rym Kefi , et al.
Genetic Testing and Molecular Biomarkers, 2014, 18 (11), pp.741 - 748. ⟨10.1089/gtmb.2014.0175⟩
Journal articles pasteur-01375052v1

Inherited IL-12p40 Deficiency Genetic, Immunologic, and Clinical Features of 49 Patients From 30 Kindreds

Carolina Prando , Arina Samarina , Jacinta Bustamante , Stephanie Boisson-Dupuis , Aurélie Cobat , et al.
Medicine, 2013, 92 (2), pp.109-122. ⟨10.1097/MD.0b013e31828a01f9⟩
Journal articles pasteur-01375115v1