Novel mutations, including the second most common in Japan, in the β- hexosaminidase α subunit gene, and a simple screening of Japanese patients with Tay-Sachs disease

Journal of Human Genetics

Volumn 44, Issue 2, 1999, Pages 91-95

  Tanaka, Akemi ^a   Fujimaru, Mutsuko ^a   Choeh, Kyuchul ^b   Isshiki, Gen ^a  

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

^b Eulji University School of Medicine   (South Korea)

Author keywords

Hexosaminidase subunit gene; Molecular diagnosis; Mutation screening; Tay Sachs disease; The two major mutations

Indexed keywords

ADENINE; BETA N ACETYLHEXOSAMINIDASE A; DNA; GUANINE;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME SUBUNIT; GENE DELETION; GENE MUTATION; HUMAN; JAPAN; MISSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; POLYMERASE CHAIN REACTION; SCREENING TEST; STOP CODON; TAY SACHS DISEASE;

BASE SEQUENCE; BETA-N-ACETYLHEXOSAMINIDASE; CELLS, CULTURED; DNA PRIMERS; GENETIC SCREENING; HUMANS; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; TAY-SACHS DISEASE;

EID: 0033051434     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380050116     Document Type: Article

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