A nonsense mutation (R220X) in the α-galactosidase A gene detected in a female carrier of Fabry disease
- 1 June 1994
- journal article
- case report
- Published by Oxford University Press (OUP) in Human Molecular Genetics
- Vol. 3 (6) , 1019-1020
- https://doi.org/10.1093/hmg/3.6.1019
Abstract
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, HumaKeywords
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