Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II

MMP (Monique) Hermans, D (Dik) van Leenen, Marian Haan, CE (Clare) Beesley, Ans van der Ploeg, H Sakuraba, R Wevers, W Kleijer, H Michelakakis, EP Kirk, J Fletcher, N Bosshard, L Basel-Vanagaite, G Besley, Arnold Reuser

Research output: Contribution to journalArticleAcademicpeer-review

143 Citations (Scopus)
Original languageUndefined/Unknown
Pages (from-to)47-56
Number of pages10
JournalHuman Mutation
Volume23
DOIs
Publication statusPublished - 2004

Research programs

  • EMC MGC-02-96-01
  • EMC MM-01-54-01

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