Novel mutations causing medium chain acyl‐CoA dehydrogenase deficiency: Under‐representation of the common c.985 A > G mutation in the New York state population

No abstract is available for this paper.

• Publication year

  2008

• Venue

  American Journal of Medical Genetics. Part A

• Publication date

  2008-03-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1002/ajmg.a.32192PMID 18241067
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• [Medium-chain acyl-coenzyme A dehydrogenase deficiency].

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• Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency.

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