A Synonymous Variant c.579A>G in the ETFDH Gene Caused Exon Skipping in a Patient With Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Case Report
Background: Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder characterized by a wide range of clinical features, including muscle weakness, hypoglycemia, metabolic acidosis, and multisystem dysfunctions. Loss-of-function mutations in the electron transfer flavopro...
Bewaard in:
Hoofdauteurs: | , , , , , , |
---|---|
Formaat: | Boek |
Gepubliceerd in: |
Frontiers Media S.A.,
2020-03-01T00:00:00Z.
|
Onderwerpen: | |
Online toegang: | Connect to this object online. |
Tags: |
Voeg label toe
Geen labels, Wees de eerste die dit record labelt!
|
Internet
Connect to this object online.3rd Floor Main Library
Plaatsingsnummer: |
A1234.567 |
---|---|
Kopie 1 | Beschikbaar |