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Carnitine-palmitoyltransferase 2 deficiency: Novel mutations and relevance of newborn screening

✍ Scribed by Sabine Illsinger; Thomas Lücke; Michael Peter; Jos P.N. Ruiter; Ronald J.A. Wanders; Marcus Deschauer; Ingrid Handig; Wim Wuyts; Anibh M. Das

Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
61 KB
Volume
146A
Category
Article
ISSN
1552-4825

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## Communicated by Haig Kazazian Using polymerase chain reaction, single-stranded conformational polymorphism (SSCP), TaqI restriction analysis and direct sequencing, exons 1,