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Vidali, S.* ; Urquhart, J.* ; Rozman, J. ; Thompson, K.* ; Sanders, C.* ; Jamson, E.* ; Breen, C.* ; Rathkolb, B. ; Da Silva-Buttkus, P. ; Marschall, S. ; Amarie, O.V. ; Aguilar-Pimentel, J.A. ; Calzada-Wack, J. ; Becker, L. ; Cho, Y. ; Garrett, L. ; Hölter, S.M. ; Klein-Rodewald, T. ; Mayer-Kuckuk, P. ; Treise, I. ; Zimprich, A. ; Gampe, K. ; Leuchtenberger, S. ; Pfannes, K. ; Stoeger, C. ; Maier, H. ; Graw, J. ; Wurst, W. ; Hoefig, K.P. ; Feichtinger, R.G.* ; Gaertner, U.* ; Szibor, M.* ; Wittig, I.* ; Mayr, J.A.* ; Newman, W.* ; Fuchs, H. ; Taylor, R.W.* ; Gailus-Durner, V. ; Prokisch, H. ; Hrabě de Angelis, M.

A homozygous two exon deletion in UQCRH: Matching mouse and human phenotype.

Eur. J. Hum. Genet. 27, 818-819 (2019)
Open Access Green as soon as Postprint is submitted to ZB.
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Publication type Article: Journal article
Document type Meeting abstract
Language english
Publication Year 2019
HGF-reported in Year 2019
ISSN (print) / ISBN 1018-4813
e-ISSN 1476-5438
Journal European Journal of Human Genetics
Quellenangaben Volume: 27, Issue: , Pages: 818-819 Article Number: , Supplement: ,
Publisher Nature Publishing Group
Publishing Place Macmillan Building, 4 Crinan St, London N1 9xw, England
Reviewing status Peer reviewed
Institute(s) Institute of Experimental Genetics (IEG)
Institute of Developmental Genetics (IDG)
Research Unit Molecular Immune Regulation (AMIR)
Institute of Human Genetics (IHG)
POF-Topic(s) 30201 - Metabolic Health
30204 - Cell Programming and Repair
30203 - Molecular Targets and Therapies
30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Research field(s) Genetics and Epidemiology
Immune Response and Infection
PSP Element(s) G-500692-001
G-500600-001
G-500500-001
G-500500-002
G-501712-001
G-500700-001
WOS ID WOS:000489313106145
Erfassungsdatum 2019-10-29
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