Identification of two novel mutations in the hydroxymethylbilane synthase gene in three patients from two unrelated families with acute intermittent porphyria

Human Heredity

Volumn 48, Issue 1, 1998, Pages 24-29

  Ong, Patricia M L ^a,e   Lanyon, W George ^a   Hift, Richard J ^b   Halkett, Janet ^b   Cramp, Celia E ^c   Moore, Michael R ^d   Connor, J Michael ^a  

^a UNIVERSITY OF GLASGOW   (United Kingdom)

^b SOUTH AFRICAN MEDICAL RESEARCH COUNCIL   (South Africa)

^c WHISTON HOSPITAL   (United Kingdom)

^d UNIVERSITY OF QUEENSLAND   (Australia)

^e RESEARCH INSTITUTE OF THE MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

Author keywords

Acute intermittent porphyria; CpG dinucleotide; Hydroxymethylbilane synthase

Indexed keywords

COMPLEMENTARY DNA; DNA; PORPHOBILINOGEN DEAMINASE;

ACUTE INTERMITTENT PORPHYRIA; ARTICLE; CASE REPORT; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; HUMAN; MISSENSE MUTATION; POINT MUTATION;

FEMALE; HUMANS; HYDROXYMETHYLBILANE SYNTHASE; MALE; MUTATION; PEDIGREE; PORPHYRIA, ACUTE INTERMITTENT;

EID: 0031973260     PISSN: 00015652     EISSN: None     Source Type: Journal    
DOI: 10.1159/000022777     Document Type: Article

References (18)

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