Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6-sulfatase

Genomics

Volumn 81, Issue 1, 2003, Pages 1-5

  Mok, Andrea ^a   Cao, Henian ^a   Hegele, Robert A ^a  

^a ROBARTS RESEARCH INSTITUTE   (Canada)

Author keywords

Inborn errors of metabolism; Lyases; Metabolic disease; Nonsense mutation; Variation (genetics)

Indexed keywords

GENE PRODUCT; GENOMIC DNA; HEPARAN SULFATE; N ACETYLGLUCOSAMINE 6 SULFATASE; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; ETHNIC GROUP; EXON; GENE AMPLIFICATION; GENE SEQUENCE; GENETIC CODE; GENOTYPE; HOMOZYGOSITY; HUMAN; HUMAN CELL; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROMOTER REGION; RNA TRANSLATION; SANFILIPPO SYNDROME; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 0037289510     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0888-7543(02)00014-9     Document Type: Article

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