Article
A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT.
Blood - 15 Aug 2013
Krawitz Peter M, Höchsmann Britta, Murakami Yoshiko, Teubner Britta, Krüger Ulrike, Klopocki Eva, Neitzel Heidemarie, Hoellein Alexander, Schneider Christina, Parkhomchuk Dmitri, Hecht Jochen, Robinson Peter N, Mundlos Stefan, Kinoshita Taroh, Schrezenmeier Hubert
Abstract excerpt
To ascertain the genetic basis of a paroxysmal nocturnal hemoglobinuria (PNH) case without somatic mutations in PIGA, we performed deep next-generation sequencing on all exons of known genes of the glycosylphosphatidylinositol (GPI) anchor synthesis pathway. We identified a heterozygous germline...
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