Rapidly advancing phenotype consistently identified in five Brazilian MPS VI patients homozygous for the R315Q mutation
Molecular Genetics and Metabolism(2013)
Abstract
Roberto Giugliani, Marcia Ribeiro, Ana-Carolina Paula, Isabel Furquim, Eugenia Valadares, Ana-Maria Martins, Karlla Jesuino, Adriana Brites, Camila Padilha, Camila Bittar, Luciana Giugliani, Ida Schwartz, Sandra Leistner-Segal, HCPA, Porto Alegre, RS, Brazil, IPPGM, UFRJ, Rio de Janeiro, RJ, Brazil, Hospital Municipal da Crianca, Guarulhos, SP, Brazil, Department of Pediatrics, UFMG, Belo Horizonte, MG, Brazil, Department of Pediatrics, UNIFESP, Sao Paulo, SP, Brazil
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Key words
brazilian mps vi patients,mutation,phenotype
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