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Volumn 14, Issue 4, 2004, Pages 683-689
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ASA E382K disrupts a potential exonic splicing enhancer and causes exon skipping, but missense mutations in ASA are not associated with ESEs.
a
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Author keywords
[No Author keywords available]
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Indexed keywords
CEREBROSIDE SULFATASE;
GLUTAMIC ACID;
ALTERNATIVE RNA SPLICING;
ARTICLE;
CASE REPORT;
CHEMISTRY;
CHILD;
EXON;
GENETICS;
HUMAN;
MALE;
METABOLISM;
MISSENSE MUTATION;
NUCLEOTIDE SEQUENCE;
REGULATORY RNA SEQUENCE;
RNA SPLICING;
ALTERNATIVE SPLICING;
BASE SEQUENCE;
CEREBROSIDE-SULFATASE;
CHILD;
EXONS;
GLUTAMIC ACID;
HUMANS;
MALE;
MUTATION, MISSENSE;
REGULATORY SEQUENCES, RIBONUCLEIC ACID;
RNA SPLICING;
MLCS;
MLOWN;
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EID: 16644398779
PISSN: 11073756
EISSN: None
Source Type: Journal
DOI: 10.3892/ijmm.14.4.683 Document Type: Article |
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Times cited : (6)
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References (0)
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