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Volumn 37, Issue 5, 2000, Pages 387-389
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Incidence and molecular mechanism of aberrant splicing owing to a G→C splice acceptor site mutation causing Smith-Lemli-Opitz syndrome
a
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Author keywords
[No Author keywords available]
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Indexed keywords
7 DEHYDROCHOLESTEROL;
CHOLESTEROL OXIDASE;
COMPLEMENTARY DNA;
CYTOSINE;
GUANOSINE;
TRANSFER RNA;
ALLELE;
BINDING SITE;
CLINICAL ARTICLE;
CONTROLLED STUDY;
ENZYME DEFICIENCY;
GENE INSERTION SEQUENCE;
GENE MUTATION;
HETEROZYGOTE;
HOMOZYGOTE;
HUMAN;
HUMAN CELL;
INCIDENCE;
INTRON;
LETTER;
LEUKOCYTE;
NUCLEOTIDE SEQUENCE;
POLYMERASE CHAIN REACTION;
PRIORITY JOURNAL;
SKIN FIBROBLAST;
SMITH LEMLI OPITZ SYNDROME;
SPLICEOSOME;
ALTERNATIVE SPLICING;
BASE SEQUENCE;
DNA, COMPLEMENTARY;
HUMANS;
INTRONS;
MOLECULAR SEQUENCE DATA;
OXIDOREDUCTASES;
OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS;
POINT MUTATION;
REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;
SEQUENCE ANALYSIS, DNA;
SMITH-LEMLI-OPITZ SYNDROME;
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EID: 0034101912
PISSN: 00222593
EISSN: None
Source Type: Journal
DOI: None Document Type: Letter |
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Times cited : (10)
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References (11)
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