Morquio A Syndrome‐Associated Mutations: A Review of Alterations in the GALNS Gene and a New Locus‐Specific Database-Reference-Cited by-同舟云学术

Morquio A Syndrome‐Associated Mutations: A Review of Alterations in the GALNS Gene and a New Locus‐Specific Database

Published:2014-09-17 Issue:11 Volume:35 Page:1271-1279
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Morrone Amelia¹²,Caciotti Anna¹,Atwood Robert³,Davidson Kathryn⁴,Du Chaoyi³,Francis‐Lyon Patricia⁵,Harmatz Paul⁶,Mealiffe Matthew⁴,Mooney Sean³,Oron Tal Ronnen³,Ryles April⁵,Zawadzki Karl A.⁷,Miller Nicole⁴

Affiliation:

1. Molecular and Cell Biology Laboratory Pediatric Neurology Unit and Laboratories Meyer Children's Hospital Florence Italy

2. Department of Neurosciences, Psychology, Pharmacology and Child Health University of Florence Florence Italy

3. The Buck Institute for Research on Aging Novato California

4. BioMarin Pharmaceutical Inc. Novato California

5. Department of Computer Science University of San Francisco San Francisco California

6. UCSF Benioff Children's Hospital Oakland Oakland California

7. Health Interactions Inc. San Francisco California

Funder

National Institutes of Health

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.22635

Reference47 articles.

1. A method and server for predicting damaging missense mutations

2. Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type‐II GM1 gangliosidosis patient;Caciotti A;Hum Genet,2003

3. Role of ?-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis

4. Morquio A syndrome due to Maternal Uniparental Isodisomy of the telomeric end of chromosome 16

5. Joint contractures in the absence of inflammation may indicate mucopolysaccharidosis

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