Supravalvular aortic stenosis: A splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts

Human Genetics

Volumn 104, Issue 2, 1999, Pages 135-142

  Urbán, Zsolt ^a   Michels, Virginia V ^b   Thibodeau, Stephen N ^b   Donis Keller, Helen ^c   Csiszár, Katalin ^a   Boyd, Charles D ^a  

^a UNIVERSITY OF HAWAII   (United States)

^b MAYO CLINIC   (United States)

^c WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ELASTIN; MESSENGER RNA;

AMINO ACID SEQUENCE; AORTA SUPRAVALVULAR STENOSIS; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; GENE EXPRESSION; GENE INSERTION; GENE MUTATION; HAPLOTYPE; HUMAN; HUMAN CELL; INTRON; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM; SKIN FIBROBLAST; STOP CODON;

ALTERNATIVE SPLICING; AORTIC VALVE STENOSIS; BINDING SITES; ELASTIN; FEMALE; GENE EXPRESSION REGULATION; HUMANS; MALE; MUTATION; PEDIGREE; RNA SPLICING;

EID: 0032973922     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050926     Document Type: Article

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