GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing
Title:
GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing
Author:
Malekkou, Anna Theodosiou, Athina Alexandrou, Angelos Papaevripidou, Ioannis Sismani, Carolina Jacobs, Edwin H. Ruijter, George J.G. Anastasiadou, Violetta Ourani, Sofia Athanasiou, Emilia Drousiotou, Anthi Grafakou, Olga Petrou, Petros P.