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Title:

Mutant Adenosine Deaminase 2 in a Polyarteritis Nodosa Vasculopathy

Document type:
Article
Author(s):
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
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...     »
Journal title abbreviation:
N Engl J Med
Year:
2014
Journal volume:
370
Journal issue:
10
Pages contribution:
921-931
Language:
eng
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/24552285
Print-ISSN:
0028-4793
TUM Institution:
Institut für Humangenetik; Neurologische Klinik und Poliklinik
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