OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells
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Title
OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells
Authors
Keywords
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Journal
HUMAN MOLECULAR GENETICS
Volume 24, Issue 4, Pages 994-1006
Publisher
Oxford University Press (OUP)
Online
2014-10-11
DOI
10.1093/hmg/ddu514
References
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- (2009) Gerald R. V. Hammond et al. BIOCHEMICAL JOURNAL
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