Glycogen Storage Disease Type II: Identification of Four Novel Missense Mutations (D645N, G648S, R672W, R672Q) and Two Insertions/Deletions in the Acid alpha-Glucosidase Locus of Patients of Differing Phenotype

Author： Huie M.L.   Tsujino S.   Brooks S.S.   Engel A.   Elias E.   Bonthron D.T.   Bessley C.   Shanske S.   DiMauro S.   Goto Y.I.   Hirschhorn R.  

Publisher： Elsevier

ISSN： 0006-291X

Source： Biochemical and Biophysical Research Communications, Vol.244, Iss.3, 1998-03, pp. : 921-927

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