A founder mutation underlies a severe form of phosphoglutamase 3 (PGM3) deficiency in Tunisian patients.

导出 LinkOut

翻译打印收藏纠错

作者： Leila,Ben-Khemis ^[1] ; Najla,Mekki ^[2] ; Imen,Ben-Mustapha ^[2] ; Karen,Rouault ^[3] ; Fethi,Mellouli ^[4] ; Monia,Khemiri ^[5] ; Mohamed,Bejaoui ^[4] ; Leila,Essaddam ^[6] ; Saayda,Ben-Becher ^[6] ; Lamia,Boughamoura ^[7] ; Saida,Hassayoun ^[7] ; Meriem,Ben-Ali ^[8] ; Mohamed-Ridha,Barbouche ^[2]

作者单位： Laboratory of Transmission, Control and Immunobiology of Infections (LR11IPT02), Tunis, Tunisia; University of Carthage, Sidi Bou Said, 1054 Carthage, Tunisia. ^[1] Laboratory of Transmission, Control and Immunobiology of Infections (LR11IPT02), Tunis, Tunisia; Université Tunis El Manar, 1068 Tunis, Tunisia. ^[2] Inserm, UMR 1078, Brest, France, Laboratoire de Génétique Moléculaire, CHRU Brest, Hôpital Morvan, Brest, France. ^[3] Department of Pediatrics, National Bone Marrow Transplantation Center, Tunis, Tunisia. ^[4] Department of Pediatrics, Bechir Hamza Children's Hospital, Tunis, Tunisia. ^[5] Department of Pediatrics PUC, Bechir Hamza, Children's Hospital, Tunis, Tunisia. ^[6] Department of Pediatrics, Farhat Hached Hospital, Sousse, Tunisia. ^[7] 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. ^[8]

关键词 Congenital disorder of glycosylation Consanguinity Glu340del founder mutation PGM3 deficiency