P219: Genetic, biochemical and clinical properties of GLA p.Asp313Tyr variant in a large German cohort

• Tobias Boettcher,
• Christian Beetz,
• Daniel Schulze,
• Deepa Saravanakumar,
• Emir Zonic,
• Sabine Schroeder,
• Anett Kaune,
• Omid Paknia,
• Jorge Pinto Basto,
• Peter Bauer

Affiliations

Tobias Boettcher

Centogene GmbH, Rostock, Germany

Christian Beetz

Centogene GmbH, Rostock, Germany

Daniel Schulze

Institute of Biometry and Clinical Epidemiology, Charité-Universitätsmedizin Berlin, Germany

Deepa Saravanakumar

Centogene GmbH, Rostock, Germany

Emir Zonic

Centogene GmbH, Rostock, Germany

Sabine Schroeder

Centogene GmbH, Rostock, Germany

Anett Kaune

Centogene GmbH, Rostock, Germany

Omid Paknia

Centogene GmbH, Rostock, Germany

Jorge Pinto Basto

Centogene GmbH, Rostock, Germany

Peter Bauer

Centogene GmbH, Rostock, Germany