Molecular analysis of the α-N-acetylglucosaminidase gene in seven Japanese patients from six unrelated families with mucopolysaccharidosis IIIB (Sanfilippo type B), including two novel mutations

Journal of Human Genetics

Volumn 47, Issue 9, 2002, Pages 484-487

  Tanaka, A ^a   Kimura, M ^a   Lan, H T N ^a   Takaura, N ^a   Yamano, T ^a  

^a OSAKA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

N acetylglucosaminidase; Japanese patents; Molecular analysis; Mucopolysaccharidosis type IIIB; Okinawa district; Sanfilippo syndrome type B

Indexed keywords

ALPHA N ACETYLGLUCOSAMINIDASE;

ADULT; ALLELE; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC POLYMORPHISM; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; JAPAN; MALE; PHENOTYPE; SANFILIPPO SYNDROME;

ACETYLGLUCOSAMINIDASE; ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; FIBROBLASTS; HUMANS; JAPAN; LYMPHOCYTES; MALE; MUCOPOLYSACCHARIDOSIS III; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC;

EID: 0036376925     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380200070     Document Type: Article

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