Insertion of Alu element responsible for acute intermittent porphyria

Human Mutation

Volumn 13, Issue 6, 1999, Pages 431-438

  Mustajoki, Sami ^a   Ahola, Helena ^a   Mustajoki, Pertti ^a   Kauppinen, Raili ^a  

^a HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

Author keywords

Acute intermittent porphyria; Alu repeat; HMBS; Mutation; Porphobilinogen deaminase gene; Transposable element

Indexed keywords

PORPHOBILINOGEN;

ALLELE; ARTICLE; CHROMOSOME 11Q; CLINICAL ARTICLE; DIMERIZATION; EVOLUTION; EXON; FEMALE; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; HUMAN; IMMUNOBLOTTING; LYMPHOBLAST; MALE; MOLECULAR CLONING; OPEN READING FRAME; POINT MUTATION; POLYMERASE CHAIN REACTION; PORPHYRIA; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; STEADY STATE;

ADULT; ALU ELEMENTS; ANIMALS; BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 11; COS CELLS; FEMALE; HUMANS; MALE; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; MUTAGENESIS; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PORPHYRIA, ACUTE INTERMITTENT; TRANSFECTION;

EUKARYOTA;

EID: 0032971402     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1999)13:6<431::AID-HUMU2>3.0.CO;2-Y     Document Type: Article

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