α1-Antitrypsin nonsense mutation associated with a retained truncated protein and reduced mRNA

Molecular Genetics and Metabolism

Volumn 63, Issue 4, 1998, Pages 270-280

  Lee, JungHwa ^a   Novoradovskaya, Natalia ^a   Rundquist, Barbara ^a   Redwine, Jeffery ^a   Saltini, Cesare ^b   Brantly, Mark ^a  

^a NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

^b Div di Tisiol e Malat Apparato R   (Italy)

Author keywords

MRNA; Nonsense mutation; Truncated protein; 1 antitrypsin

Indexed keywords

ALPHA 1 ANTITRYPSIN; LEUKOCYTE ELASTASE; MESSENGER RNA;

ALLELE; ALPHA 1 ANTITRYPSIN DEFICIENCY; ANIMAL CELL; ARTICLE; CELLULAR DISTRIBUTION; CHO CELL; ENDOPLASMIC RETICULUM; EXON; GENE DELETION; HUMAN; LIVER DISEASE; LUNG EMPHYSEMA; NONHUMAN; NONSENSE MUTATION; PEDIGREE ANALYSIS; PRIORITY JOURNAL; PROTEIN DEGRADATION; RNA SPLICING; SEQUENCE ANALYSIS; STOP CODON;

ANIMALIA; CRICETINAE; CRICETULUS GRISEUS;

EID: 0032051454     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.1998.2680     Document Type: Article

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