Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porp yria

Journal of Medical Genetics

Volumn 32, Issue 12, 1995, Pages 979-981

  Lundin, Gunnel ^a   Hashemi, Jamileh ^a   Floderus, Ylva ^b   Thunell, Stig ^b   Sagen, Erling ^c   Lægreid, Astrid ^d   Wassif, Wassif ^e   Peters, Timothy ^e   Anvret, Maria ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b ST GÖRAN S HOSPITAL   (Sweden)

^c TRONDHEIM UNIVERSITY HOSPITAL   (Norway)

^d NORWEGIAN UNIVERSITY OF SCIENCE AND TECHNOLOGY   (Norway)

^e KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

PORPHOBILINOGEN DEAMINASE;

ACUTE INTERMITTENT PORPHYRIA; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; INTRON; MALE; NONSENSE MUTATION; NORWAY; PRIORITY JOURNAL; RNA SPLICING; SWEDEN; UNITED KINGDOM;

ACUTE DISEASE; BASE SEQUENCE; DNA PRIMERS; FEMALE; HUMAN; HYDROXYMETHYLBILANE SYNTHASE; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PORPHYRIA; RNA SPLICING; SUPPORT, NON-U.S. GOV'T;

EID: 0028858113     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.32.12.979     Document Type: Article

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