Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes.

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作者： Aleksandra,Jezela-Stanek ^[1] ; Elżbieta,Ciara ^[2] ; Dorota,Piekutowska-Abramczuk ^[2] ; Joanna,Trubicka ^[2] ; Elżbieta,Jurkiewicz ^[3] ; Dariusz,Rokicki ^[4] ; Hanna,Mierzewska ^[5] ; Justyna,Spychalska ^[6] ; Małgorzata,Uhrynowska ^[6] ; Marta,Szwarc-Bronikowska ^[4] ; Piotr,Buda ^[4] ; Abdul Rahim,Said ^[7] ; Ewa,Jamroz ^[8] ; Małgorzata,Rydzanicz ^[9] ; Rafał,Płoski ^[9] ; Małgorzata,Krajewska-Walasek ^[2] ; Ewa,Pronicka ^[10]

作者单位： Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland. Electronic address: jezela@gmail.com. ^[1] Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland. ^[2] Department of Diagnostic Imaging, The Children's Memorial Health Institute, Warsaw, Poland. ^[3] Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland. ^[4] Department of Child and Adolescent Neurology, Institute of Mother and Child, Warsaw, Poland. ^[5] Department of Immunology, Institute of Hematology and Transfusion Medicine, Warsaw, Poland. ^[6] Children's Home Hospice, Opole, Poland. ^[7] Department of Pediatrics and Developmental Age Neurology, Medical University of Silesia, Katowice, Poland. ^[8] Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland. ^[9] Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland; Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland. ^[10]

关键词 Congenital disorders of glycosylation Flow cytometry GPI-anchor deficiency PGAP2 gene PIGN gene