Ahmet O Çağlayan Beyhan Tüysüz Süleyman Coşkun Jennifer Quon Akdes S Harmancı Jacob F Baranoski Burçin Baran E Zeynep Erson-Omay Octavian Henegariu Shrikant M Mane Kaya Bilgüvar Katsuhito Yasuno Murat Günel
10.1038/jhg.2015.160
J Hum Genet
2016 May;61(5):395-403.
NO-CC CODE
https://pubmed.ncbi.nlm.nih.gov/26740239/
Alpha-Ketoglutarate-Dependent Dioxygenase FTO / genetics Cholesterol Ester Transfer Proteins / genetics Genetic Association Studies Homozygote Mutation, Missense
Alpha-Ketoglutarate-Dependent Dioxygenase FTO / genetics Cholesterol Ester Transfer Proteins / genetics Genetic Association Studies Homozygote Mutation, Missense Case Reports Apoptosis / genetics Biopsy Child, Preschool Computational Biology / methods Consanguinity DNA Copy Number Variations DNA Mutational Analysis Exome Female Gene Expression Gene Expression Profiling Genotype High-Throughput Nucleotide Sequencing Humans Phenotype Transcriptome CETP protein, human Cholesterol Ester Transfer Proteins Alpha-Ketoglutarate-Dependent Dioxygenase FTO FTO protein, human
PMC4880488
26740239
A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP
2016