Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria
Author:
Publisher
Oxford University Press (OUP)
Subject
Genetics(clinical),Genetics,Molecular Biology,General Medicine
Link
http://academic.oup.com/hmg/article-pdf/7/4/619/2671860/7-4-619.pdf
Cited by 112 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Structural insights into the pathogenicity of point mutations in human acyl-CoA dehydrogenase homotetramers;Journal of Biological Physics;2023-12-16
2. Diverse and unselected adults with clinically relevant ACADS variants lack evidence of metabolic disease;Molecular Genetics and Metabolism;2023-01
3. Variants in the ethylmalonyl‐CoA decarboxylase ( ECHDC1 ) gene: a novel player in ethylmalonic aciduria?;Journal of Inherited Metabolic Disease;2021-06-08
4. Neonatal Screening on Tandem Mass Spectrometry as a Powerful Tool for the Reassessment of the Prevalence of Underestimated Diseases in Newborns and Their Family Members: A Focus on Short Chain Acyl-CoA Dehydrogenase Deficiency;International Journal of Neonatal Screening;2020-07-28
5. A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy;Molecular Case Studies;2020-06
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