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References

These sources were used to develop the Genetics Home Reference gene summary on the GALNS gene.

Entrez Gene
Montaño AM, Sukegawa K, Kato Z, Carrozzo R, Di Natale P, Christensen E, Orii KO, Orii T, Kondo N, Tomatsu S. Effect of 'attenuated' mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfatase. J Inherit Metab Dis. 2007 Oct;30(5):758-67. Epub 2007 Sep 17. PubMed citation
OMIM: GALACTOSAMINE-6-SULFATE SULFATASE
Tomatsu S, Montaño AM, Lopez P, Trandafirescu G, Gutierrez MA, Oikawa H, Nishioka T, Vieira MB, Orii T, Noguchi A. Determinant factors of spectrum of missense variants in mucopolysaccharidosis IVA gene. Mol Genet Metab. 2006 Sep-Oct;89(1-2):139-49. Epub 2006 Jul 11. PubMed citation
Tomatsu S, Montaño AM, Nishioka T, Gutierrez MA, Peña OM, Tranda Firescu GG, Lopez P, Yamaguchi S, Noguchi A, Orii T. Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A). Hum Mutat. 2005 Dec;26(6):500-12. PubMed citation

Reviewed: July 2010

Published: May 13, 2013