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Titel:

A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT.

Dokumenttyp:
Case Reports; Comparative Study; Journal Article; Research Support, Non-U.S. Gov't; Article
Autor(en):
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:
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 splice site mutation in PIGT and a somatic 8-MB deletion in granulocytes affecting the other copy of PIGT. PIGA is essential for GPI anchor synthesis, whereas PIGT is essential for attachment of the prea...     »
Zeitschriftentitel:
Blood
Jahr:
2013
Band / Volume:
122
Heft / Issue:
7
Seitenangaben Beitrag:
1312-5
Sprache:
eng
Volltext / DOI:
doi:10.1182/blood-2013-01-481499
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/23733340
Print-ISSN:
0006-4971
TUM Einrichtung:
III. Medizinische Klinik und Poliklinik (Hämatologie / Onkologie)
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