Genetic and biochemical characterization of 16 acute intermittent porphyria cases with a high prevalence of the R173W mutation

Journal of Inherited Metabolic Disease

Volumn 29, Issue 4, 2006, Pages 580-585

  To Figueras, J ^a   Badenas, C ^a   Carrera, C ^a   Munoz C ^a   Mila M ^a   Lecha, M ^a   Herrero, C ^a  

^a UNIVERSITY OF BARCELONA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; HEME ARGINATE; PORPHOBILINOGEN DEAMINASE; PORPHYRIN;

ACUTE INTERMITTENT PORPHYRIA; ADULT; ARTICLE; CHEMICAL ANALYSIS; CLINICAL ARTICLE; DNA DETERMINATION; ENZYME ACTIVITY; ENZYME ANALYSIS; FEMALE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENETIC IDENTIFICATION; HETEROZYGOSITY; HUMAN; MALE; PENETRANCE; PREVALENCE; RECURRENT DISEASE; REMISSION; URINALYSIS; URINARY EXCRETION;

ADOLESCENT; ADULT; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; HYDROXYMETHYLBILANE SYNTHASE; MALE; MIDDLE AGED; MODELS, GENETIC; MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PORPHOBILINOGEN; PORPHYRIA, ACUTE INTERMITTENT; PORPHYRINS; SENSITIVITY AND SPECIFICITY;

EID: 33746873229     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-006-0344-6     Document Type: Article

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