Identification of 12 novel mutations in the α-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB)

Journal of Medical Genetics

Volumn 35, Issue 11, 1998, Pages 910-914

  Beesley, Clare E ^a   Young, Elisabeth P ^a   Vellodi, Ashok ^a   Winchester, Bryan G ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

N acetylglucosaminidase; Mucopolysaccharidosis IIIB; Mutations; Sanfilippo syndrome type B

Indexed keywords

ALPHA N ACETYLGLUCOSAMINIDASE; DNA; GLYCOSAMINOGLYCAN; HEPARAN SULFATE;

ALLELE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; EXON; GENE DELETION; GENE INSERTION; GENE MUTATION; HUMAN; INTRON; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SANFILIPPO SYNDROME; SINGLE STRAND CONFORMATION POLYMORPHISM;

ACETYLGLUCOSAMINIDASE; DNA MUTATIONAL ANALYSIS; HUMANS; MUCOPOLYSACCHARIDOSIS III; MUTATION;

EID: 0031762053     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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