Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease
Author:
Affiliation:
1. Albrecht-Kossel-Institute for Neuroregeneration; Medical University Rostock; Rostock Germany
2. Institute of Biomedicine and Molecular Immunology “A. Monroy” (IBIM); National Research Council (CNR); Palermo Italy
3. Centogene AG; Rostock Germany
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22910/fullpdf
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4. Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study-screening genetic conditions in Portuguese young stroke patients;Baptista;Stroke,2010
5. Does geographical location influence the phenotype of Fabry disease in women in Europe;Barba-Romero;Clin Genet,2010
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