نتایج جستجو برای: rare mutations

تعداد نتایج: 402573  

Journal: :The American Journal of Human Genetics 2000

Journal: :iranian journal of allergy, asthma and immunology 0
zahra alizadeh immunology, asthma & allergy research institute, tehran university of medical sciences, tehran, iran mohammad reza fazlollahi immunology, asthma & allergy research institute, tehran university of medical sciences, tehran, iran payman eshghi department of pediatrics department, mofid children hospital, shaheed beheshti medical university, tehran, iran amir ali hamidieh hematology-oncology & sct research centre, shariati hospital, tehran university of medical sciences, tehran, iran zahra pourpak immunology, asthma & allergy research institute, tehran university of medical sciences, tehran, iran mohsen ghadami immunology, asthma & allergy research institute, tehran university of medical sciences, tehran, iran

severe congenital neutropenia (scn) is a rare primary immunodeficiency. different genes are found to be associated with scn, including ela2, hax1, was, gfi1, g-csfr. also, recently g6pc3 as a rare gene in scn has been reported. patients with g6pc3 often have cardiac and/or urogenital malformations. two patients with   persistent   severe   neutropenia,   recurrent   infections   and   maturatio...

Journal: :Mathematical Modelling of Natural Phenomena 2016

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