Concepedia

Publication | Closed Access

Broad spectrum of Pompe disease in patients with the same c.-32-13T→G haplotype

DOI

168

Citations

18

References

2007

Year

Marian A. Kroos, Robert J. Pomponio, M.L.C. Hagemans, J. L. M. Keulemans, Michael Phipps, Matthew DeRiso, Rachel Palmer, M.G.E.M. Ausems, Nadine A. M. E. van der Beek, O. P. van Diggelen,
Neurology

Abstract

Patients with the same c.-32-13T-->G haplotype (c.q. GAA genotype) may manifest first symptoms at different ages, indicating that secondary factors may substantially influence the clinical course of patients with this mutation.

References

YearCitations

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