QR-kod

A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death.

Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common known genetic disorder of fatty acid oxidation. Most (approximately 80%) cases are homozygous for a single mutation: A to G replacement at nucleotide 985 (A985G). MCAD deficiency typically presents in the second year of life as...

Full beskrivning

Sparad:
I publikationen:J Clin Invest
Huvudupphov: Brackett, J C, Sims, H F, Steiner, R D, Nunge, M, Zimmerman, E M, deMartinville, B, Rinaldo, P, Slaugh, R, Strauss, A W
Materialtyp: Artigo
Språk:Inglês
Utgiven: American Society for Clinical Investigation 1994
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC295287/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7929823/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI117486
Taggar: Lägg till en tagg
Inga taggar, Lägg till första taggen!

Liknande verk