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Dokumenttyp:
Article
Autor(en):
Elkan, PN; Pierce, SB; Segel, R; Walsh, T; Barash, J; Padeh, S; Zlotogorski, A; Berkun, Y; Press, JJ; Mukamel, M; Voth, I; Hashkes, PJ; Harel, L; Hoffer, V; Ling, E; Yalcinkaya, F; Kasapcopur, O; Lee, MK; Klevit, RE; Renbaum, P; Weinberg-Shukron, A; Sener, EF; Schormair, B; Zeligson, S; Marek-Yagel, D; Strom, TM; Shohat, M; Singer, A; Rubinow, A; Pras, E; Winkelmann, J; Tekin, M; Anikster, Y; King, MC; Levy-Lahad, E
Titel:
Mutant Adenosine Deaminase 2 in a Polyarteritis Nodosa Vasculopathy
Abstract:
BackgroundPolyarteritis nodosa is a systemic necrotizing vasculitis with a pathogenesis that is poorly understood. We identified six families with multiple cases of systemic and cutaneous polyarteritis nodosa, consistent with autosomal recessive inheritance. In most cases, onset of the disease occurred during childhood. MethodsWe carried out exome sequencing in persons from multiply affected families of Georgian Jewish or German ancestry. We performed targeted sequencing in additional family mem...     »
Zeitschriftentitel:
N Engl J Med
Jahr:
2014
Band / Volume:
370
Heft / Issue:
10
Seitenangaben Beitrag:
921-931
Sprache:
eng
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/24552285
Print-ISSN:
0028-4793
TUM Einrichtung:
Institut für Humangenetik; Neurologische Klinik und Poliklinik
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