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Molecular findings and clinical manifestations of 18 Iranian children with Griscelli syndrome type 2: Two novel homozygote mutations in RAB27A gene in a patient.

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第一作者： Shaghayegh,Tajik

第一单位： Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.;Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.

作者： Shaghayegh,Tajik ^[1] ; Mohsen,Badalzadeh ^[1] ; Massoud,Houshmand ^[2] ; Zahra,Alizadeh ^[1] ; Leila,Moradi ^[1] ; Amir Ali,Hamidieh ^[3] ; Alireza,Shafiei ^[4] ; Javad Ahmadiani,Heris ^[5] ; Seiamak,Bahram ^[6] ; Anne,Molitor ^[6] ; Raphael,Carapito ^[6] ; Mostafa,Moin ^[1] ; Mohammad Reza,Fazlollahi ^[1] ; Zahra,Pourpak ^[1]

作者单位： Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.;Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran. ^[1] Department of Medical Genetics, National Institute of Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran. ^[2] Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.;Pediatric Cell and Gene Therapy Research Center, Gene, Cell & Tissue Research Institute, Tehran University of Medical Sciences, Tehran, Iran. ^[3] Allergy and Clinical Immunology division, Pediatric Department, Bahrami Hospital, Tehran University of Medical Sciences, Tehran, Iran. ^[4] Department of Allergy and Clinical Immunology, Pediatric Hospital, Tabriz University of Medical Sciences, Tabriz, Iran. ^[5] Laboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, Strasbourg, France.;Service d'Immunologie Biologique, Plateau Technique de Biologie, Pôle de Biologie, Nouvel Hôpital Civil, 1 place de l'Hôpital, 67091, Strasbourg, France. ^[6]

关键词 Griscelli syndrome RAB27A gene novel mutation