Výsledky vyhledávání - "Saber Hamami"

A Founder Effect of c.257 + 2T > C Mutation in NCF2 Gene Underlies Severe Chronic Granulomatous Disease in Eleven Patients

Autor: Khaoula Ben-Farhat, Monia Khemiri, Zohra Fitouri, Sihem Barsaoui, Najla Mekki, Meriem Ben-Ali, Selim Abdelmoula, Mohamed-Neji Guediche, M. R. Barbouche, Samir Boukthir, Saber Hamami, Imen Ben-Mustapha, Amel Ben-Chehida, Jalel Chemli, Karen Rouault, Beya Larguèche

Publikováno v: Journal of Clinical Immunology
Journal of Clinical Immunology, Springer Verlag, 2016, 36 (6), pp.547-554. ⟨10.1007/s10875-016-0299-9⟩

International audience; Chronic granulomatous disease (CGD) is the prototypic functional neutrophil disorder caused by genetic defects in one of the five genes encoding the superoxide-generating nicotinamide adenine dinucleotide phosphate (NADPH)-oxi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d93add6bc9843dc959ccce1265808deb
https://doi.org/10.1007/s10875-016-0299-9

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Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes

Autor: Saber Hamami, F. Amri, Wafa Ben Romdane, Gustavo Pérez de Nanclares, Donia Elhayek, Amel Haj Khelil, Nadia Leban, Mohamed Neji Gueddiche, Slaheddine Chouchane, Samir M'Rabet, Monia Troudi, Jemni Ben Chibani, Gema Ariceta, Luis Castaño, Adnene Mlika

Publikováno v: BMC Medical Genetics
Addi. Archivo Digital para la Docencia y la Investigación
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Background Primary distal renal tubular acidosis (dRTA) caused by mutations in the genes that codify for the H + −ATPase pump subunits is a heterogeneous disease with a poor phenotype-genotype correlation. Up to now, large cohorts of dRTA Tunisian

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d9194b5f2301257c31892f0a0305f02
http://europepmc.org/articles/PMC4225572

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