Natural course of Fabry disease with the p. Arg227Ter (p.R227*) mutation in Finland: Fast study
Abstract Background Fabry disease is caused by a deficient or an absent alfa‐galactosidase A activity and is an X‐linked disorder that results in organ damage and a shortened life span, especially in males. The severity of the disease depends on the type of mutation, gender, skewed X‐chromosome inac...
Main Authors: | Päivi Pietilä‐Effati, Jukka T. Saarinen, Eliisa Löyttyniemi, Reijo Autio, Maria Saarenhovi, Maria K. Haanpää, Ilkka Kantola |
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Format: | Article |
Language: | English |
Published: |
Wiley
2019-10-01
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Series: | Molecular Genetics & Genomic Medicine |
Subjects: | |
Online Access: | https://doi.org/10.1002/mgg3.930 |
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