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...

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Detalhes bibliográficos
Main Authors: Brackett, J C, Sims, H F, Steiner, R D, Nunge, M, Zimmerman, E M, deMartinville, B, Rinaldo, P, Slaugh, R, Strauss, A W
Formato: Artigo
Idioma:Inglês
Publicado em: 1994
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC295287/
https://ncbi.nlm.nih.gov/pubmed/7929823
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