Identification and characterization of a novel homozygous deletion in the α-N-acetylglucosaminidase gene in a patient with Sanfilippo type B syndrome (mucopolysaccharidosis IIIB)

Molecular Genetics and Metabolism

Volumn 100, Issue 1, 2010, Pages 51-56

  Champion, Kristen J ^a   Basehore, Monica J ^a   Wood, Tim ^a   Destrée, Anne ^b   Vannuffel, Pascal ^b   Maystadt, Isabelle ^b  

^a GREENWOOD GENETIC CENTER   (United States)

^b INSTITUTE OF PATHOLOGY AND GENETICS   (Belgium)

Author keywords

Alu mediated recombination; Deletion; Mucopolysaccharidosis; NAGLU; Sanfilippo

Indexed keywords

ALPHA N ACETYLGLUCOSAMINIDASE;

ALU SEQUENCE; ARTICLE; CASE REPORT; CONSANGUINITY; GENE DELETION; GENETIC RECOMBINATION; HOMOZYGOSITY; HUMAN; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SANFILIPPO SYNDROME;

ACETYLGLUCOSAMINIDASE; BASE SEQUENCE; CHILD; CONSANGUINITY; FEMALE; HUMANS; INFANT; MOLECULAR SEQUENCE DATA; MUCOPOLYSACCHARIDOSIS III; PEDIGREE; SEQUENCE DELETION;

EID: 77950521638     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.01.004     Document Type: Article

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