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Cathy Meaney, Lianne C. Blanch, C.Phillip Morris, A nonsense mutation (R220X) in the α-galactosidase A gene detected in a female carrier of Fabry disease, Human Molecular Genetics, Volume 3, Issue 6, June 1994, Pages 1019–1020, https://doi.org/10.1093/hmg/3.6.1019
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© 1994 Oxford University Press
Issue Section:
MUTATION REPORTS
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