A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP
Çağlayan AO, Tüysüz B, Coşkun S, Quon J, Harmancı AS, Baranoski JF, Baran B, Erson-Omay EZ, Henegariu O, Mane SM, Bilgüvar K, Yasuno K, Günel M. A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP. Journal Of Human Genetics 2016, 61: 395-403. PMID: 26740239, PMCID: PMC4880488, DOI: 10.1038/jhg.2015.160.Peer-Reviewed Original ResearchMeSH KeywordsAlpha-Ketoglutarate-Dependent Dioxygenase FTOApoptosisBiopsyChild, PreschoolCholesterol Ester Transfer ProteinsComputational BiologyConsanguinityDNA Copy Number VariationsDNA Mutational AnalysisExomeFemaleGene ExpressionGene Expression ProfilingGenetic Association StudiesGenotypeHigh-Throughput Nucleotide SequencingHomozygoteHumansMutation, MissensePhenotypeTranscriptome