Extension of the Pompe mutation database by linking disease‐associated variants to clinical severity-Reference-Cited by-同舟云学术

Extension of the Pompe mutation database by linking disease‐associated variants to clinical severity

Published:2019-07-29 Issue:11 Volume:40 Page:1954-1967
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Niño Monica Y.¹²³,in 't Groen Stijn L.M.¹²³,Bergsma Atze J.¹²³,Beek Nadine A.M.E.¹³,Kroos Marian²,Hoogeveen‐Westerveld Marianne²,Ploeg Ans T.¹³,Pijnappel W.W.M. Pim¹²³^ORCID

Affiliation:

1. Department of Pediatrics Erasmus University Medical Center Rotterdam The Netherlands

2. Department of Clinical Genetics Erasmus University Medical Center Rotterdam The Netherlands

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

Funder

Sanofi Genzyme

Ministry of Economic Affairs under TKI-allowance under TKI-programme Life Sciences & Health

Administrative Department of Science, Technology and Innovation

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23854

Reference48 articles.

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

2. Alternative Splicing in Genetic Diseases: Improved Diagnosis and Novel Treatment Options

3. Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II;Boerkoel C. F.;American Journal of Human Genetics,1995

4. Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy

5. Effect of enzyme therapy in juvenile patients with Pompe disease: A three-year open-label study

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