Characterization of a novel exonic deletion in the GALNS gene causing Morquio A syndrome-Reference-Cited by-同舟云学术

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Characterization of a novel exonic deletion in the GALNS gene causing Morquio A syndrome

Published:2022-12 Issue: Volume:33 Page:100920
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

DeLong Kathryn,Feigenbaum Annette,Pollard Laura,Lay Andrew,Wood Timothy

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference12 articles.

1. Online Mendelian Inheritance in Man, OMIM®,2018

2. Online Mendelian Inheritance in Man, OMIM®,2020

3. GeneReviews®;Adam,2019

4. Growth charts for patients affected with Morquio A disease;Montaño;Am. J. Med. Genet. A,2008

5. Minimal clinically important difference for the 6-min walk test: literature review and application to Morquio A syndrome;Schrover;Orphanet J. Rare Dis.,2017

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1. Mucopolysaccharidosis IVA: Current Disease Models and Drawbacks;International Journal of Molecular Sciences;2023-11-09

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