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A founder mutation underlies a severe form of phosphoglutamase 3 (PGM3) deficiency in Tunisian patients.
Ben-Khemis, Leila; Mekki, Najla; Ben-Mustapha, Imen; Rouault, Karen; Mellouli, Fethi; Khemiri, Monia; Bejaoui, Mohamed; Essaddam, Leila; Ben-Becher, Saayda; Boughamoura, Lamia; Hassayoun, Saida; Ben-Ali, Meriem; Barbouche, Mohamed-Ridha.
Afiliação
  • Ben-Khemis L; Laboratory of Transmission, Control and Immunobiology of Infections (LR11IPT02), Tunis, Tunisia; University of Carthage, Sidi Bou Said, 1054 Carthage, Tunisia.
  • Mekki N; Laboratory of Transmission, Control and Immunobiology of Infections (LR11IPT02), Tunis, Tunisia; Université Tunis El Manar, 1068 Tunis, Tunisia.
  • Ben-Mustapha I; Laboratory of Transmission, Control and Immunobiology of Infections (LR11IPT02), Tunis, Tunisia; Université Tunis El Manar, 1068 Tunis, Tunisia.
  • Rouault K; Inserm, UMR 1078, Brest, France, Laboratoire de Génétique Moléculaire, CHRU Brest, Hôpital Morvan, Brest, France.
  • Mellouli F; Department of Pediatrics, National Bone Marrow Transplantation Center, Tunis, Tunisia.
  • Khemiri M; Department of Pediatrics, Bechir Hamza Children's Hospital, Tunis, Tunisia.
  • Bejaoui M; Department of Pediatrics, National Bone Marrow Transplantation Center, Tunis, Tunisia.
  • Essaddam L; Department of Pediatrics PUC, Bechir Hamza, Children's Hospital, Tunis, Tunisia.
  • Ben-Becher S; Department of Pediatrics PUC, Bechir Hamza, Children's Hospital, Tunis, Tunisia.
  • Boughamoura L; Department of Pediatrics, Farhat Hached Hospital, Sousse, Tunisia.
  • Hassayoun S; Department of Pediatrics, Farhat Hached Hospital, Sousse, Tunisia.
  • Ben-Ali M; Laboratory of Transmission, Control and Immunobiology of Infections (LR11IPT02), Tunis, Tunisia; Université Tunis El Manar, 1068 Tunis, Tunisia. Electronic address: meriem.benali@pasteur.rns.tn.
  • Barbouche MR; Laboratory of Transmission, Control and Immunobiology of Infections (LR11IPT02), Tunis, Tunisia; Université Tunis El Manar, 1068 Tunis, Tunisia.
Mol Immunol ; 90: 57-63, 2017 10.
Article em En | MEDLINE | ID: mdl-28704707
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fosfoglucomutase / Predisposição Genética para Doença Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male País/Região como assunto: Africa Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fosfoglucomutase / Predisposição Genética para Doença Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male País/Região como assunto: Africa Idioma: En Ano de publicação: 2017 Tipo de documento: Article