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A Large Intragenic Deletion in the ACADM Gene Can Cause MCAD Deficiency but is not Detected on Routine Sequencing

We report of a family who has three members affected by medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, one of whom sadly died in the neonatal period prior to diagnosis. Routine sequencing, available on a service basis in the UK, identified only a heterozygous mutation in ACADM gene (c.985A&g...

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Dettagli Bibliografici
Autori principali: Searle, Claire, Andresen, Brage Storstein, Wraith, Ed, Higgs, Jamie, Gray, Deborah, Mills, Alison, Allen, K. Elizabeth, Hobson, Emma
Natura: Artigo
Lingua:Inglês
Pubblicazione: Springer Berlin Heidelberg 2013
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3755559/
https://ncbi.nlm.nih.gov/pubmed/23546811
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2013_216
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