Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients

Journal of Inherited Metabolic Disease

Volumn 28, Issue 6, 2005, Pages 1027-1034

  Petry, M F G ^a,b   Nonemacher, K ^a   Sebben, J C ^a   Schwartz, I V D ^a,b   Azevedo, A C M ^a   Burin, M G ^a   de Rezende, A R ^c   Kim, C A ^d   Giugliani, R ^a,b   Leistner Segal, S ^a  

^a HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^b FEDERAL UNIVERSITY OF RIO GRANDE DO SUL   (Brazil)

^c Instituto Materno Infantil   (Brazil)

^d UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ARGININE; ARYLSULFATASE; ASPARAGINE; ASPARTIC ACID; GLUTAMINE; GLYCINE; HISTIDINE; LEUCINE; METHIONINE; N ACETYLGALACTOSAMINE 4 SULFATASE; PROLINE; SERINE; THREONINE; VALINE;

ADOLESCENT; ALLELE; ARTICLE; BRAZIL; CHILD; CHILE; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; GENE DELETION; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC IDENTIFICATION; GENETIC POLYMORPHISM; HUMAN; MAROTEAUX LAMY SYNDROME; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; SOUTH AMERICA; STOP CODON;

ADOLESCENT; ADULT; ALLELES; CHILD; CHILD, PRESCHOOL; CHONDROITINSULFATASES; DNA MUTATIONAL ANALYSIS; EXONS; HUMANS; INFANT; MUCOPOLYSACCHARIDOSIS VI; MUTATION; N-ACETYLGALACTOSAMINE-4-SULFATASE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE ANALYSIS, DNA; SOUTH AMERICA; VARIATION (GENETICS);

EID: 31644435646     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-005-0020-2     Document Type: Article

References (15)

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