Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria

American Journal of Human Genetics

Volumn 60, Issue 6, 1997, Pages 1373-1383

  Puy, H ^a   Deybach, J C ^a   Lamoril, J ^a   Robreau, A M ^a   Da Silva, V ^a   Gouya, L ^a   Grandchamp, B ^b   Nordmann, Y ^a  

^a HÔPITAL LOUIS MOURIER   (France)

^b INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DNA FRAGMENT; PORPHOBILINOGEN DEAMINASE;

ACUTE INTERMITTENT PORPHYRIA; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; DENATURING GRADIENT GEL ELECTROPHORESIS; EXON; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC DISORDER; GENETIC SCREENING; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NONSENSE MUTATION; PREVALENCE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS;

EID: 0030959246     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/515455     Document Type: Article

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