Common N-acetylgalactosamine-6-sulfate sulfatase (GALNS) exon mutations in Brazilian patients with mucopolysaccharidosis IVA (MPS IVA)

Common N-acetylgalactosamine-6-sulfate sulfatase (GALNS) exon mutations in Brazilian patients with mucopolysaccharidosis IVA (MPS IVA)

Morquio A Syndrome (mucopolysaccharidosis IVA - MPS IVA, OMIM# 253000) is an autosomal recessive inborn error of metabolism caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS). We investigated five unrelated Brazilian MPS IVA families for mutations in exons 4, 5, 9 and 10 o...

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Bibliographic Details
Main Authors: Tatiana Dieter, Ursula da Silveira Matte, Ida Vanessa Schwartz, Shunji Tomatsu, Roberto Giugliani
Format: Article
Language:English
Published: Sociedade Brasileira de Genética 2007-01-01
Series:Genetics and Molecular Biology
Subjects:
GALNS mutations
GALNS mutation detection
mucopolysaccharidosis IVA
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000400004

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