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Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease)

✍ Scribed by Roberto Fernandez-Hojas; Maryann L. Huie; Carmen Navarro; Carmen Dominguez; Manuel Roig; Diana Lopez-Coronas; Susana Teijeira; Kwame Anyane-Yeboa; Rochelle Hirschhorn

Book ID: 117669460
Publisher: Elsevier Science
Year: 2002
Tongue: English
Weight: 287 KB
Volume: 12
Category: Article
ISSN: 0960-8966
DOI: 10.1016/s0960-8966(01)00247-4

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