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

Searle, Claire; Andresen, Brage Storstein; Wraith, Ed; Higgs, Jamie; Gray, Deborah; Mills, Alison; Allen, K Elizabeth; Hobson, Emma

Searle, Claire; Andresen, Brage Storstein; Wraith, Ed; Higgs, Jamie; Gray, Deborah; Mills, Alison; Allen, K Elizabeth; Hobson, Emma.

Afiliação

Searle C; Yorkshire Regional Genetic Service, Chapel Allerton Hospital, Chapeltown Rd, Leeds, LS7 4SA, UK, cjs29@doctors.org.uk.

JIMD Rep ; 11: 13-6, 2013.

Article em En | MEDLINE | ID: mdl-23546811

Texto completo

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3755559
https://dx.doi.org/10.1007/8904_2013_216

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Texto completo: 1 Bases de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: JIMD Rep Ano de publicação: 2013 Tipo de documento: Article