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Volumn 264, Issue 35, 1989, Pages 21376-21380
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A frameshift mutation in a patient with Tay-Sachs disease causes premature termination and defective intracellular transport of the α-subunit of β-hexosaminidase
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Author keywords
[No Author keywords available]
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Indexed keywords
BETA N ACETYLHEXOSAMINIDASE;
ARTICLE;
CASE REPORT;
ENZYME SUBUNIT;
FRAMESHIFT MUTATION;
HEREDITY;
HUMAN;
INTRACELLULAR TRANSPORT;
PRIORITY JOURNAL;
TAY SACHS DISEASE;
AMINO ACID SEQUENCE;
BASE SEQUENCE;
BETA-N-ACETYLHEXOSAMINIDASE;
CELLS, CULTURED;
FEMALE;
GENES, STRUCTURAL;
HUMAN;
MACROMOLECULAR SYSTEMS;
MALE;
MOLECULAR SEQUENCE DATA;
MUTATION;
OLIGONUCLEOTIDE PROBES;
POLYMERASE CHAIN REACTION;
PROTEIN PROCESSING, POST-TRANSLATIONAL;
RNA, MESSENGER;
SKIN;
SUPPORT, U.S. GOV'T, P.H.S.;
TAY-SACHS DISEASE;
TRANSCRIPTION, GENETIC;
GENETTA;
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EID: 0024788009
PISSN: 00219258
EISSN: None
Source Type: Journal
DOI: None Document Type: Article |
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Times cited : (69)
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References (0)
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