Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study

Author:

Germain Dominique P.1ORCID,Brand Eva2,Burlina Alessandro3,Cecchi Franco4,Garman Scott C.5,Kempf Judy6,Laney Dawn A.7,Linhart Aleš8,Maródi László9,Nicholls Kathy10,Ortiz Alberto11,Pieruzzi Federico12,Shankar Suma P.713ORCID,Waldek Stephen14,Wanner Christoph15,Jovanovic Ana16

Affiliation:

1. Division of Medical Genetics; University of Versailles; Paris-Saclay University; Montigny France

2. Department of Nephrology, Hypertension and Rheumatology; University Hospital Münster; Münster Germany

3. Neurological Unit; St Bassiano Hospital; Bassano del Grappa Italy

4. Referral Center for Cardiomyopathies; Cardiothoraco-vascular Department; Careggi University Hospital; Florence Italy

5. Department of Biochemistry and Molecular Biology; University of Massachusetts Amherst; Amherst MA USA

6. Formerly Sanofi Genzyme; Cambridge MA USA

7. Department of Human Genetics; Emory University School of Medicine; Atlanta GA USA

8. Second Department of Medicine - Department of Cardiovascular Medicine; 1st Faculty of Medicine; Charles University; Prague Czech Republic

9. Department of Infectious and Pediatric Immunology; University of Debrecen; Debrecen Hungary

10. Department of Nephrology; Royal Melbourne Hospital, and Department of Medicine; University of Melbourne; Parkville VIC Australia

11. Unidad de Dialisis; IIS-Fundación Jiménez Díaz; School of Medicine; UAM, IRSIN and REDINREN; Madrid Spain

12. Department of Medicine and Surgery; Nephrology Unit; University of Milano-Bicocca; Monza Italy

13. Department of Pediatrics; Division of Genomic Medicine; UC Davis School of Medicine; Sacramento CA USA

14. University of Sunderland; Sunderland UK

15. Renal Division; University Hospital of Würzburg; Würzburg Germany

16. Mark Holland Metabolic Unit; Salford Royal NHS Foundation Trust; Salford UK

Funder

Intensificación FIS

FEDER Funds REDINREN

Plan National Maladies Rares

Sanofi Genzyme

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Reference45 articles.

1. Characterization of classical and nonclassical Fabry disease: A multicenter study;Arends;Journal of the American Society of Nephrology,2017

2. HGVS recommendations for the description of sequence variants: 2016 update;Dunnen;Human Mutation,2016

3. X-chromosome inactivation in female patients with Fabry disease;Echevarria;Clinical Genetics,2016

4. Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease;Elleder;Virchows Archiv. A, Pathological Anatomy and Histopathology,1990

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