Detection of four novel mutations in the porphobilinogen deaminase gene in french caucasian patients with acute intermittent porphyria

Human Heredity

Volumn 46, Issue 3, 1996, Pages 177-180

  Puy, H ^a   Deybach, J C ^a   Lamoril, J ^a   Robreau, A M ^a   Nordmann, Y ^a  

^a HÔPITAL LOUIS MOURIER   (France)

Author keywords

Acute intermittent porphyria; Mutation; PBGD gene

Indexed keywords

PORPHOBILINOGEN DEAMINASE;

ACUTE INTERMITTENT PORPHYRIA; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CAUCASIAN; CONTROLLED STUDY; DENATURING GRADIENT GEL ELECTROPHORESIS; EXON; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC HETEROGENEITY; HEME SYNTHESIS; HUMAN; HUMAN CELL; NUCLEIC ACID BASE SUBSTITUTION; STOP CODON;

EID: 0029985268     PISSN: 00015652     EISSN: 14230062     Source Type: Journal    
DOI: 10.1159/000154349     Document Type: Article

References (8)

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3. Gu XF, de Rooij F, Voortman G, Te Velde K, Devbach JC, Nordmann Y, Grandchamp B: Detection of eleven mutations causing acute intermittent porphyria using denatu-rating gradient gel electropliorcsis, Hum Genet 1994;93:47-52.
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