Sanfilippo type B syndrome: Five patients with an R565P homozygous mutation in the α-N-acetylglucosaminidase gene from the Okinawa islands in Japan

Journal of Human Genetics

Volumn 50, Issue 7, 2005, Pages 357-359

  Chinen, Yasutsugu ^a   Tohma, Takaya ^a   Izumikawa, Yoshinori ^a   Uehara, Hiroyuki ^a   Ohta, Takao ^a  

^a UNIVERSITY OF THE RYUKYUS   (Japan)

Author keywords

N acetylglucosaminidase (NAGLU); Founder effect; Mucopolysaccharidosis type IIIB; Sanfilippo type B syndrome

Indexed keywords

ALPHA N ACETYLGLUCOSAMINIDASE;

ADOLESCENT; ADULT; ARTICLE; CLINICAL ARTICLE; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; GENETIC SCREENING; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; JAPAN; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PRESCHOOL CHILD; SANFILIPPO SYNDROME; SANFILIPPO SYNDROME TYPE B;

ACETYLGLUCOSAMINIDASE; ADULT; CHILD; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; GENETIC SCREENING; HUMANS; JAPAN; MUCOPOLYSACCHARIDOSIS III; MUTATION, MISSENSE; SEQUENCE ANALYSIS, DNA;

EID: 23944490648     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-005-0258-4     Document Type: Article

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