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Screening for pompe disease using a rapid dried blood spot method: Experience of a clinical diagnostic laboratory

โœ Scribed by Jennifer L. Goldstein; Sarah P. Young; Mohita Changela; Gwen H. Dickerson; Haoyue Zhang; Jian Dai; Denise Peterson; David S. Millington; Priya S. Kishnani; Deeksha S. Bali

Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
119 KB
Volume
40
Category
Article
ISSN
0148-639X

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โœ Holden, Jeanette J. A.; Chalifoux, Maryse; Wing, Maggie; Julien-Inalsingh, Colin ๐Ÿ“‚ Article ๐Ÿ“… 1996 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 564 KB

We used a rapid and inexpensive method for studying the FMRl CGG-repeat from dried blood spots, prepared from heel pricks, finger pricks, or an aliquot of blood from a venipuncture. The procedure includes a single tube for preparation of template DNA for PCR and minimal handling, avoiding opportunit