Acute intermittent porphyria caused by defective splicing of porphobilinogen deaminase RNA: A synonymous codon mutation at - 22 bp from the 5′ splice site causes skipping of exon 3

Journal of Medical Genetics

Volumn 33, Issue 5, 1996, Pages 437-438

  Llewellyn, D H ^a   Scobie, G A ^a,c   Urquhart, A J ^a,d   Whatley, S D ^a   Roberts, A G ^a   Harrison, P R ^b   Elder, G H ^a  

^a CARDIFF UNIVERSITY   (United Kingdom)

^b BEATSON INSTITUTE FOR CANCER RESEARCH   (United Kingdom)

^c QUEEN S MEDICAL CENTRE   (United Kingdom)

^d FORENSIC SCIENCE SERVICE   (United Kingdom)

Author keywords

Acute intermittent porphyria; Porphobilinogen deaminase; RNA splicing

Indexed keywords

DEAMINASE; PORPHOBILINOGEN DEAMINASE;

ACUTE INTERMITTENT PORPHYRIA; ARTICLE; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; EXON; GENE MUTATION; HUMAN; HUMAN CELL; INTRON; PRIORITY JOURNAL; RNA SPLICING;

ACUTE DISEASE; BINDING SITES; CODON; EXONS; HUMANS; HYDROXYMETHYLBILANE SYNTHASE; MUTATION; PORPHYRIAS; RNA SPLICING;

EID: 0029869938     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.5.437     Document Type: Article

References (12)

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