Large deletion involving exon 5 of the arylsulfatase B gene caused apparent homozygosity in a mucopolysaccharidosis type VI patient

Genetic Testing and Molecular Biomarkers

Volumn 14, Issue 1, 2010, Pages 113-120

  Villani, Guglielmo R D ^a   Grosso, Michela ^a   Pontarelli, Gianfranco ^a   Chierchia, Armando ^a   Sessa, Raffaele ^a   Sibilio, Michelina ^a   Parenti, Giancarlo ^a   Di Natale, Paola ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; COMPLEMENTARY DNA; ENZYME; GENOMIC DNA; N ACETYLGALACTOSAMINE 4 SULFATASE; PROTEIN;

ARTICLE; CASE REPORT; CHILD; DATA BASE; DNA DETERMINATION; DNA SEQUENCE; EXON; GENE DELETION; GENE MUTATION; GENETIC COUNSELING; HOMOZYGOSITY; HUMAN; INTRON; MAROTEAUX LAMY SYNDROME; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; REACTION ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

BASE SEQUENCE; CHILD; CODON, NONSENSE; DNA PRIMERS; DNA, COMPLEMENTARY; EXONS; FEMALE; FRAMESHIFT MUTATION; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUCOPOLYSACCHARIDOSIS VI; N-ACETYLGALACTOSAMINE-4-SULFATASE; SEQUENCE DELETION;

EID: 76949100248     PISSN: 19450265     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2009.0138     Document Type: Article

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