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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Main Authors: Yew, T.W, McCreight, L, Colclough, K, Ellard, S, Pearson, E.R
Other Authors: MEDICINE
Format: Article
Published: Blackwell Publishing Ltd 2020
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Online Access:https://scholarbank.nus.edu.sg/handle/10635/179292
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spelling 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
institution National University of Singapore
building NUS Library
continent Asia
country Singapore
Singapore
content_provider NUS Library
collection ScholarBank@NUS
topic 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
spellingShingle 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
description 10.1111/dme.13024
author2 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
url https://scholarbank.nus.edu.sg/handle/10635/179292
_version_ 1800914549364228096