Identification and characterisation of an 8.7 kb deletion and a novel nonsense mutation in two Italian families with Sanfilippo syndrome type D (mucopolysaccharidosis IIID)

Molecular Genetics and Metabolism

Volumn 90, Issue 1, 2007, Pages 77-80

  Beesley, Clare E ^a   Concolino, Daniela ^b   Filocamo, Mirella ^c   Winchester, Bryan G ^a   Strisciuglio, Pietro ^b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY MAGNA GRAECIA OF CATANZARO   (Italy)

^c G GASLINI INSTITUTE   (Italy)

Author keywords

Glycosaminoglycan; Lysosomal storage disease; Mucopolysaccharidosis IIID; Mutations; Sanfilippo syndrome type D

Indexed keywords

HEPARAN SULFATE; N ACETYLGLUCOSAMINE;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CATABOLISM; CHEMICAL ANALYSIS; CHILD; CLINICAL ARTICLE; EXON; FEMALE; GENE DELETION; GENE IDENTIFICATION; HUMAN; LYSOSOME STORAGE DISEASE; MALE; MOLECULAR MECHANICS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SANFILIPPO SYNDROME;

BASE SEQUENCE; CHILD; CODON, NONSENSE; GLYCOSAMINOGLYCANS; HUMANS; ITALY; MALE; MUCOPOLYSACCHARIDOSIS III; SEQUENCE DELETION; SULFATASES;

EID: 33845215026     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2006.07.014     Document Type: Article

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