Article
Sequence analysis of the SRGN, AP3B1, ARF6, and SH2D1A genes in familial hemophagocytic lymphohistiocytosis.
Pediatric blood & cancer - 1 May 2008
Ma Daoxin, Rudd Eva, Edner Josefine, Gavhed Sofie, Ramme Kim Göransdotter, Fadeel Bengt, Nordenskjöld Magnus, Henter Jan-Inge, Zheng Chengyun
Abstract excerpt
In the present study, DNA sequencing of the genes SRGN, ARF6, AP3B1, and SH2D1A was performed in a well defined cohort of 18 families with familial hemophagocytic lymphohistiocytosis (FHL). A heterozygous nucleotide change (C > T) in the 3'untranslated region of the SRGN gene and a monoallelic 3-base pair deletion (c.2409_2411delGAA) in exon 21 of the AP3B1 gene were observed in two different families....
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