Natural course of Fabry disease with the p. Arg227Ter (p.R227*) mutation in Finland: Fast study

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...

Full description

Bibliographic Details
Main Authors: Päivi Pietilä‐Effati, Jukka T. Saarinen, Eliisa Löyttyniemi, Reijo Autio, Maria Saarenhovi, Maria K. Haanpää, Ilkka Kantola
Format: Article
Language:English
Published: Wiley 2019-10-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
cardiac hypertrophy
disease progression
Fabry disease
gender
genotype
late‐onset
Online Access:https://doi.org/10.1002/mgg3.930

Internet

https://doi.org/10.1002/mgg3.930

Similar Items