A novel deleterious <scp> <i>ETFA</i> </scp> promoter variant causative of multiple <scp>acyl‐CoA</scp> dehydrogenase deficiency-Reference-Cited by-同舟云学术

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A novel deleterious ETFA promoter variant causative of multiple acyl‐CoA dehydrogenase deficiency

Published:2022-12-28 Issue:4 Volume:191 Page:1089-1093
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Prasun Pankaj¹^ORCID,Evans Anthony¹,Cork Emalyn¹,Houten Sander M.¹,Webb Bryn D.¹²^ORCID

Affiliation:

1. Department of Genetics & Genomic Sciences Icahn School of Medicine at Mount Sinai New York New York USA

2. Division of Genetics and Metabolism, Department of Pediatrics University of Wisconsin School of Medicine and Public Health Madison Wisconsin USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63104

Reference18 articles.

1. The role of exome sequencing in newborn screening for inborn errors of metabolism

2. Disorders of riboflavin metabolism

3. Riboflavin transport and metabolism in humans

4. Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency

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1. Platelet Microparticle-Derived MiR-320b Inhibits Hypertension with Atherosclerosis Development by Targeting ETFA;International Heart Journal;2024-03-30

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