Detection of four mutations in six unrelated South African patients with acute intermittent porphyria

Molecular and Cellular Probes

Volumn 10, Issue 1, 1996, Pages 57-61

  Ong, Patricia M L ^a   Lanyon, W George ^a   Hift, Richard J ^b   Halkett, Janet ^b   Moore, Michael R ^c   Mgone, Charles S ^d   Connor, J Michael ^a  

^a UNIVERSITY OF GLASGOW   (United Kingdom)

^b SOUTH AFRICAN MEDICAL RESEARCH COUNCIL   (South Africa)

^c UNIVERSITY OF QUEENSLAND   (Australia)

^d PAPUA NEW GUINEA INSTITUTE OF MEDICAL RESEARCH   (Papua New Guinea)

Author keywords

Acute intermittent porphyria; CpG dinucleotides; Hydroxymethylbilane synthase; South African

Indexed keywords

COMPLEMENTARY DNA; DNA; PORPHOBILINOGEN DEAMINASE;

ACUTE INTERMITTENT PORPHYRIA; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; GENE FREQUENCY; GENE INSERTION; GENE MUTATION; GENETIC SCREENING; HUMAN; HUMAN CELL; MISSENSE MUTATION; NETHERLANDS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SOUTH AFRICA; STOP CODON;

EID: 0029873603     PISSN: 08908508     EISSN: None     Source Type: Journal    
DOI: 10.1006/mcpr.1996.0008     Document Type: Article

References (19)

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