Mucopolysaccharidosis type IIIB (Sanfilippo B): Identification of 18 novel α-N-acetylglucosaminidase gene mutations

Journal of Medical Genetics

Volumn 36, Issue 1, 1999, Pages 28-31

  Bunge, Susanna ^a   Knigge, Astrid ^a   Steglich, Cordula ^a   Kleijer, Wim J ^b   Van Diggelen, Otto P ^b   Beck, Michael ^c   Gal, Andreas ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

Author keywords

Mucopolysaccharidosis tppe IIIB; Mutation screening; Sanfilippo B disease; N acetylglucosaminidase

Indexed keywords

ALPHA N ACETYLGLUCOSAMINIDASE; COMPLEMENTARY DNA; HETERODUPLEX;

ALLELE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DELETION MUTANT; ENZYME DEFICIENCY; GENE MUTATION; HUMAN; HUMAN CELL; MISSENSE MUTATION; MUCOPOLYSACCHARIDOSIS; NONSENSE MUTATION; PRIORITY JOURNAL; SANFILIPPO SYNDROME; SINGLE STRAND CONFORMATION POLYMORPHISM; START CODON;

EID: 0032939916     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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