Three RFLPs defining a haplotype associated with the common mutation in human medium-chain acyl-CoA dehydrogenase (MCAD) deficiency occur in Alu repeats.

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a common inborn error of fatty-acid oxidation and may cause sudden infant death. Previous studies revealed that (i) homozygosity for an A-to-G mutation at nucleotide 985 of the mRNA coding region (A985G) is an extremely common cause of MCAD de...

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Autores principales: Zhang, Z, Kolvraa, S, Zhou, Y, Kelly, D P, Gregersen, N, Strauss, A W
Formato: Artigo
Lenguaje:Inglês
Publicado: 1993
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Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682270/
https://ncbi.nlm.nih.gov/pubmed/8099254
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