M. G. Petry
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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
Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients
- M. G. Petry, K. Nonemacher, +7 authors S. Leistner-Segal
- Biology, Medicine
- Journal of Inherited Metabolic Disease
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 the… Expand
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.22.214.171.124),… Expand
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
Análise das mutações presentes no gene da arilsulfatase B (ARSB) em pacientes com mucopolissacaridose tipo VI