Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease‐associated variants, common sequence variants, and results from newborn screening-Reference-Cited by-同舟云学术

Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease‐associated variants, common sequence variants, and results from newborn screening

Published:2020-12-21 Issue:2 Volume:42 Page:119-134
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Faria Douglas O. S.¹²³^ORCID,Groen Stijn L. M.¹²³,Hoogeveen‐Westerveld Marianne²,Niño Monica Y.¹²³,Ploeg Ans T.¹³,Bergsma Atze J.¹²³,Pijnappel W. W. M. Pim¹²³^ORCID

Affiliation:

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

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

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

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24148

Reference38 articles.

1. Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: Lessons learned from 10 years of clinical laboratory testing experience