Ancestral founder of mutation W283X in the porphobilinogen deaminase gene among acute intermittent porphyria patients

Human Heredity

Volumn 54, Issue 2, 2002, Pages 69-81

  Schneider Yin, Xiaoye ^a   Hergersberg, Martin ^b   Goldgar, David E ^c   Rüfenacht, Urszula B ^a   Schuurmans, Macé M ^d   Puy, Hervé ^e   Deybach, Jean Charles ^e   Minder, Elisabeth I ^a  

^a Zentrallabor   (Switzerland)

^b CANTONAL HOSPITAL AARAU   (Switzerland)

^c INTERNATIONAL AGENCY FOR RESEARCH ON CANCER   (France)

^d STELLENBOSCH UNIVERSITY   (South Africa)

^e HÔPITAL LOUIS MOURIER   (France)

Author keywords

Acute intermittent porphyria; Founder effect; Haplotype analysis; Mutation

Indexed keywords

PORPHOBILINOGEN DEAMINASE;

ACUTE INTERMITTENT PORPHYRIA; ALLELE; ARTICLE; CHROMOSOME 11; CLINICAL ARTICLE; CONTROLLED STUDY; DNA FLANKING REGION; FOUNDER EFFECT; FRANCE; GENE MUTATION; GENE SEQUENCE; HAPLOTYPE; HUMAN; INTRON; MOLECULAR CLONING; MUTATIONAL ANALYSIS; NONSENSE MUTATION; SINGLE NUCLEOTIDE POLYMORPHISM; SWITZERLAND;

AMINO ACID SUBSTITUTION; FEMALE; GENES, DOMINANT; HAPLOTYPES; HUMANS; HYDROXYMETHYLBILANE SYNTHASE; MALE; MICROSATELLITE REPEATS; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PORPHYRIA, ACUTE INTERMITTENT; SEQUENCE ANALYSIS, DNA;

EID: 0036957685     PISSN: 00015652     EISSN: None     Source Type: Journal    
DOI: 10.1159/000067665     Document Type: Article

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