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Article

Laboratory diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency by the amplification refractory mutation system.

Clinical chemistry - 1 Feb 1993

Tsai M Y, Schwichtenberg K, Tuchman M

Abstract excerpt

We used the amplification refractory mutation system (ARMS)--a polymerase-chain-reaction-based method--to detect the 985 A-to-G mutation of the gene coding for the enzyme medium-chain acyl-CoA dehydrogenase (MCAD). The 985 A-to-G allele is thought to account for approximately 89% of the mutant alleles in this disorder and at least one copy was reported to be present in 98% of affected individuals. ARMS provided a...

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PMID: 8432018

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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