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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

Shaghayegh Tajik,Mohsen Badalzadeh,Massoud Houshmand,Zahra Alizadeh,Leila Moradi,Amir Ali Hamidieh,Alireza Shafiei, Javad Ahmadiani Heris,Seiamak Bahram,Anne Molitor,Raphael Carapito,Mostafa Moin,Mohammad Reza Fazlollahi,Zahra Pourpak

SCANDINAVIAN JOURNAL OF IMMUNOLOGY（2023）

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关键词
Griscelli syndrome,novel mutation,RAB27A gene
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