Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/102896
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Type: Journal article
Title: Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum
Author: Sukalo, M.
Fiedler, A.
Guzman, C.
Spranger, S.
Addor, M.
Mcheik, J.
Benavent, M.
Cobben, J.
Gillis, L.
Shealy, A.
Deshpande, C.
Bozorgmehr, B.
Everman, D.
Stattin, E.
Liebelt, J.
Keller, K.
Bertola, D.
van Karnebeek, C.
Bergmann, C.
Liu, Z.
et al.
Citation: Human Mutation, 2014; 35(5):521-531
Publisher: Wiley
Issue Date: 2014
ISSN: 1098-1004
1098-1004
Statement of
Responsibility: 
Maja Sukalo ... Jan Liebelt .. et al.
Abstract: Abstract not available
Keywords: Johanson-Blizzard syndrome; UBR1; exocrine pancreatic insufficiency; aplasia of alae nasi; cognitive impairment
Rights: © 2014 Wiley Periodicals, Inc.
RMID: 0030029112
DOI: 10.1002/humu.22538
Appears in Collections:Medicine publications

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