Two mutations remote from an exon/intron junction in the β-hexosaminidase β-subunit gene affect 3'-splice site selection and cause Sandhoff disease

Human Genetics

Volumn 103, Issue 4, 1998, Pages 462-469

  Fujimaru, Mutsuko ^a   Tanaka, Akemi ^a   Choeh, Kyuchul ^b   Wakamatsu, Nobuaki ^c   Sakuraba, Hitoshi ^d   Isshiki, Gen ^a  

^a School of Medicine   (Japan)

^b Eulji University School of Medicine   (South Korea)

^c UNIVERSITY OF TOKUSHIMA   (Japan)

^d TOKYO METROPOLITAN INSTITUTE OF MEDICAL SCIENCE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE; COMPLEMENTARY DNA; MESSENGER RNA;

ARTICLE; CASE REPORT; CONTROLLED STUDY; ENZYME DEFICIENCY; ENZYME SUBUNIT; EXON; GENE MUTATION; HUMAN; HUMAN CELL; INTRON; JAPAN; NUCLEIC ACID BASE SUBSTITUTION; PHENOTYPE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SANDHOFF DISEASE;

ANIMALS; BETA-N-ACETYLHEXOSAMINIDASE; COS CELLS; EXONS; HUMANS; INTRONS; MUTATION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; RNA SPLICING; SANDHOFF DISEASE; SEQUENCE ANALYSIS, DNA; TRANSFECTION;

EID: 0031723896     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050851     Document Type: Article

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