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

Morquio A syndrome (mucopolysaccharidosis IVA) is an autosomal recessive disorder that results from deficient activity of the enzyme N-acetylgalactosamine-6-sulfatase (GALNS) due to alterations in the GALNS gene, which causes major skeletal and connective tissue abnormalities and effects on multiple...

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Dades bibliogràfiques
Publicat a:Hum Mutat
Autors principals: Morrone, Amelia, Caciotti, Anna, Atwood, Robert, Davidson, Kathryn, Du, Chaoyi, Francis-Lyon, Patricia, Harmatz, Paul, Mealiffe, Matthew, Mooney, Sean, Oron, Tal Ronnen, Ryles, April, Zawadzki, Karl A, Miller, Nicole
Format: Artigo
Idioma:Inglês
Publicat: BlackWell Publishing Ltd 2014
Matèries:
Mutation Update
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4238747/
https://ncbi.nlm.nih.gov/pubmed/25137622
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22635
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