Clinical utility gene card for: Fabry disease – update 2016
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/ejhg201717.pdf
Reference6 articles.
1. Gal A. Molecular genetics of Fabry disease and genotype-phenotype correlation. In: Elstein D, Altarescu G, Beck M (eds): Fabry Disease. Springer Science + Business Media: London, UK, 2010, pp 34–50..
2. Lin HY, Chong KW, Hsu JH et al: High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population. Circ Cardiovasc Genet 2009; 5: 450–456.
3. Germain DP. : Fabry disease. Orphanet J Rare Dis 2010; 5: 30.
4. Echevarria L, Benistan K, Toussaint A et al: X chromosome inactivation in female patients with Fabry disease. Clin Genet 2016; 89: 44–54.
5. van der Tol L, Smid BE, Poorthuis BJHM et al: A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance. J Med Genet 2014; 51: 1–9.
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