• Publications
  • Influence
HLA-A, -B, and -DRB1 allelic and haplotypic diversity in a sample of bone marrow volunteer donors from Rio Grande do Sul State, Brazil.
The HLA A, B, and DRB1 allele, phenotype, and haplotype frequencies were studied in a sample of 5,000 volunteer bone marrow donors registered at the Brazilian Volunteer Bone Marrow Donor Registry.Expand
  • 23
  • 2
Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients
SummaryMucopolysaccharidosis type VI (Maroteaux–Lamy syndrome, MPS VI) is an autosomal recessive disorder caused by deficiency of N-acetylgalactosamine-4-sulphatase (ARSB),which leads to theExpand
  • 28
  • 2
Identification of a novel mutation in the ARSB gene that is frequent among Brazilian MPSVI patients.
Mucopolysaccharidosis type VI, or Maroteaux-Lamy syndrome, is an autosomal recessive disease caused by the deficiency of arylsulfatase B (ARSB; N-acetyl-galactosamine-4-sulfatase, E.C.,Expand
  • 21
Aplicação da biologia molecular no diagnóstico de doenças genéticas
1 Serviço de Genética Médica, Laboratório de Genética Molecular, Hospital de Clínicas de Porto Alegre. Correspondência: Dra. Sandra Leistner, Rua Ramiro Barcelos 2350, CEP 90035-003, Porto Alegre,Expand