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The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive

✍ Scribed by Linda O'Reilly; Peter Bross; Thomas J. Corydon; Simon E. Olpin; Jakob Hansen; John M. Kenney; Shawn E. McCandless; Dianne M. Frazier; Vibeke Winter; Niels Gregersen; Paul C Engel; Brage Storstein Andresen

Book ID: 110915243
Publisher: John Wiley and Sons
Year: 2004
Tongue: English
Weight: 656 KB
Volume: 271
Category: Article
ISSN: 1432-1327
DOI: 10.1111/j.1432-1033.2004.04343.x

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✍ Brage Storstein Andresen; Steve F. Dobrowolski; Linda O'Reilly; Joseph Muenzer; 📂 Article 📅 2001 🏛 American Society of Human Genetics 🌐 English ⚖ 859 KB