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Article

Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease

1 Apr 2000

Abstract excerpt

We describe the first non-Ashkenazi patient with adult polyglucosan body disease and decreased glycogen-branching enzyme (GBE) activity in leukocytes. Gene analysis revealed compound heterozygosity for two novel missense mutations Arg515His and Arg524Gln in the GBE gene. Both missense mutations are predicted to impair GBE activity. This is the first identification of GBE mutations underlying adult polyglucosan...

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PMID: 10762170
DOI: 10.1002/1531-8249(200004)47:4<536::aid-ana22>3.0.co;2-k

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