Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients, including 9 novel mutations

Molecular Genetics and Metabolism

Volumn 92, Issue 1-2, 2007, Pages 122-130

  Garrido, Elena ^a,b   Chabás, Amparo ^b,c   Coll, Maria Josep ^b,c   Blanco, Mariana ^d   Domínguez, Carmen ^b,e   Grinberg, Daniel ^a,b   Vilageliu, Lluïsa ^a,b   Cormand, Bru ^a,b  

^a UNIVERSITY OF BARCELONA   (Spain)

^b INSTITUTO DE SALUD CARLOS III   (Spain)

^c HOSPITAL CLÍNIC   (Spain)

^d Laboratorio de Neuroquímica Dr N A Chamoles   (Argentina)

^e HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

Author keywords

ARSB gene; Arylsulfatase B; Haplotype analysis; Maroteaux Lamy syndrome; MPS VI; Mucopolysaccharidosis VI; Mutational analysis; N Acetylgalactosamine 4 sulfatase

Indexed keywords

ADULT; ALLELE; AMINO ACID SUBSTITUTION; ARGENTINA; ARTICLE; CASE REPORT; GENE DISRUPTION; GENE IDENTIFICATION; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC POLYMORPHISM; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; INTRON; LINKAGE ANALYSIS; MAROTEAUX LAMY SYNDROME; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SPAIN;

ARGENTINA; CELLS, CULTURED; DNA MUTATIONAL ANALYSIS; FIBROBLASTS; HAPLOTYPES; HUMANS; MUCOPOLYSACCHARIDOSIS VI; MUTATION; N-ACETYLGALACTOSAMINE-4-SULFATASE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SPAIN;

EID: 34548458833     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2007.06.002     Document Type: Article

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