tRNA methyltransferase homologue gene TRMT10A mutation in young adult-onset diabetes with intellectual disability, microcephaly and epilepsy
10.1111/dme.13024
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2020
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sg-nus-scholar.10635-1792922024-04-18T02:13:40Z tRNA methyltransferase homologue gene TRMT10A mutation in young adult-onset diabetes with intellectual disability, microcephaly and epilepsy Yew, T.W McCreight, L Colclough, K Ellard, S Pearson, E.R MEDICINE glucose glutamic acid hemoglobin A1c insulin metformin transfer RNA methyltransferase adult Article case report disease severity epilepsy female gene gene mutation head circumference homozygosity human insulin resistance intellectual impairment male microcephaly next generation sequencing non insulin dependent diabetes mellitus nonsense mutation oral glucose tolerance test phenotype polymerase chain reaction sibling syndrome TRMT10A gene young adult 10.1111/dme.13024 Diabetic Medicine 33 9 e21-e25 2020-10-23T02:45:30Z 2020-10-23T02:45:30Z 2016 Article Yew, T.W, McCreight, L, Colclough, K, Ellard, S, Pearson, E.R (2016). tRNA methyltransferase homologue gene TRMT10A mutation in young adult-onset diabetes with intellectual disability, microcephaly and epilepsy. Diabetic Medicine 33 (9) : e21-e25. ScholarBank@NUS Repository. https://doi.org/10.1111/dme.13024 0742-3071 https://scholarbank.nus.edu.sg/handle/10635/179292 Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ Blackwell Publishing Ltd Unpaywall 20201031 |
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glucose glutamic acid hemoglobin A1c insulin metformin transfer RNA methyltransferase adult Article case report disease severity epilepsy female gene gene mutation head circumference homozygosity human insulin resistance intellectual impairment male microcephaly next generation sequencing non insulin dependent diabetes mellitus nonsense mutation oral glucose tolerance test phenotype polymerase chain reaction sibling syndrome TRMT10A gene young adult |
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glucose glutamic acid hemoglobin A1c insulin metformin transfer RNA methyltransferase adult Article case report disease severity epilepsy female gene gene mutation head circumference homozygosity human insulin resistance intellectual impairment male microcephaly next generation sequencing non insulin dependent diabetes mellitus nonsense mutation oral glucose tolerance test phenotype polymerase chain reaction sibling syndrome TRMT10A gene young adult Yew, T.W McCreight, L Colclough, K Ellard, S Pearson, E.R tRNA methyltransferase homologue gene TRMT10A mutation in young adult-onset diabetes with intellectual disability, microcephaly and epilepsy |
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10.1111/dme.13024 |
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MEDICINE |
author_facet |
MEDICINE Yew, T.W McCreight, L Colclough, K Ellard, S Pearson, E.R |
format |
Article |
author |
Yew, T.W McCreight, L Colclough, K Ellard, S Pearson, E.R |
author_sort |
Yew, T.W |
title |
tRNA methyltransferase homologue gene TRMT10A mutation in young adult-onset diabetes with intellectual disability, microcephaly and epilepsy |
title_short |
tRNA methyltransferase homologue gene TRMT10A mutation in young adult-onset diabetes with intellectual disability, microcephaly and epilepsy |
title_full |
tRNA methyltransferase homologue gene TRMT10A mutation in young adult-onset diabetes with intellectual disability, microcephaly and epilepsy |
title_fullStr |
tRNA methyltransferase homologue gene TRMT10A mutation in young adult-onset diabetes with intellectual disability, microcephaly and epilepsy |
title_full_unstemmed |
tRNA methyltransferase homologue gene TRMT10A mutation in young adult-onset diabetes with intellectual disability, microcephaly and epilepsy |
title_sort |
trna methyltransferase homologue gene trmt10a mutation in young adult-onset diabetes with intellectual disability, microcephaly and epilepsy |
publisher |
Blackwell Publishing Ltd |
publishDate |
2020 |
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https://scholarbank.nus.edu.sg/handle/10635/179292 |
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1800914549364228096 |