Identification of a pathogenicFTOmutation by next-generation sequencing in a newborn with growth retardation and developmental delay
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Title
Identification of a pathogenicFTOmutation by next-generation sequencing in a newborn with growth retardation and developmental delay
Authors
Keywords
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Journal
JOURNAL OF MEDICAL GENETICS
Volume 53, Issue 3, Pages 200-207
Publisher
BMJ
Online
2015-09-17
DOI
10.1136/jmedgenet-2015-103399
References
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Note: Only part of the references are listed.- Structural Basis for Inhibition of the Fat Mass and Obesity Associated Protein (FTO)
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- Piecing together the FTO jigsaw
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- Monitoring the Activity of 2-Oxoglutarate Dependent Histone Demethylases by NMR Spectroscopy: Direct Observation of Formaldehyde
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- The genetics of obesity: FTO leads the way
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- Loss-of-Function Mutation in the Dioxygenase-Encoding FTO Gene Causes Severe Growth Retardation and Multiple Malformations
- (2009) Sarah Boissel et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Prevalence of Loss-of-Function FTO Mutations in Lean and Obese Individuals
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- Inactivation of the Fto gene protects from obesity
- (2009) Julia Fischer et al. NATURE
- Oxidative demethylation of 3-methylthymine and 3-methyluracil in single-stranded DNA and RNA by mouse and human FTO
- (2008) Guifang Jia et al. FEBS LETTERS
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