Identification and Characterization of AberrantGAAPre-mRNA Splicing in Pompe Disease Using a Generic Approach-Reference-Cited by-同舟云学术

Identification and Characterization of AberrantGAAPre-mRNA Splicing in Pompe Disease Using a Generic Approach

Author:

Bergsma Atze J.¹²³,Kroos Marian¹³,Hoogeveen-Westerveld Marianne¹³,Halley Dicky⁴,van der Ploeg Ans T.²³,Pijnappel W. W.¹²³

Affiliation:

1. Molecular Stem Cell Biology; Department of Clinical Genetics; Erasmus MC University Medical Center; Rotterdam The Netherlands

2. Department of Pediatrics; Erasmus MC University Medical Center; Rotterdam The Netherlands

3. Center for Lysosomal and Metabolic Diseases; Erasmus MC University Medical Center; Rotterdam The Netherlands

4. Molecular Diagnostics; Department of Clinical Genetics; Erasmus MC University Medical Center; Rotterdam The Netherlands

Funder

Sophia Childrenâ€™s Hospital Foundation (SSWO)

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

Reference48 articles.

2. Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II;Boerkoel;Am J Hum Genet,1995

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