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Novel GAA sequence variant c.1211 A>G reduces enzyme activity but not protein expression in infantile and adult onset Pompe disease

✍ Scribed by Nilsson, M.I.; Kroos, M.A.; Reuser, A.J.; Hatcher, E.; Akhtar, M.; McCready, M.E.; Tarnopolsky, M.A.


Book ID
122254238
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
576 KB
Volume
537
Category
Article
ISSN
0378-1119

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