Functional characterization of zebrafish orthologs of the human Beta 3-Glucosyltransferase B3GLCT gene mutated in Peters Plus Syndrome
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Title
Functional characterization of zebrafish orthologs of the human Beta 3-Glucosyltransferase B3GLCT gene mutated in Peters Plus Syndrome
Authors
Keywords
Zebrafish, Embryos, Sequence motif analysis, TALENs, Sequence alignment, Mammalian genomics, Adults, Quality control
Journal
PLoS One
Volume 12, Issue 9, Pages e0184903
Publisher
Public Library of Science (PLoS)
Online
2017-09-20
DOI
10.1371/journal.pone.0184903
References
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- (2015) Adrian Israelson et al. NEURON
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- (2014) Hyongbum Kim et al. NATURE REVIEWS GENETICS
- NovelB3GALTLmutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes
- (2013) E. Weh et al. CLINICAL GENETICS
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- (2013) Pauline Gosselin et al. NUCLEIC ACIDS RESEARCH
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- (2012) Alana G. Lerner et al. Cell Metabolism
- Two Tunisian patients with Peters plus syndrome harbouring a novel splice site mutation in the B3GALTL gene that modulates the mRNA secondary structure
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- (2009) Chad R. Haldeman-Englert et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
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- (2009) Lihadh Al-Gazali et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
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- (2008) Linda M. Reis et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
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