Acute intermittent porphyria: Heterogeneity of mutations in the hydroxymethylbilane synthase gene in Italy

Blood Cells, Molecules, and Diseases

Volumn 27, Issue 6, 2001, Pages 961-970

  Martinez Di Montemuros, F ^a   Di Pierro, E ^a   Biolcati, G ^b   Rocchi, E ^c   Bissolotti, E ^a   Tavazzi, D ^a   Fiorelli, G ^a   Cappellini, M D ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b SAN GALLICANO DERMATOLOGICAL INSTITUTE   (Italy)

^c UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

AMINOLEVULINIC ACID; DNA; PORPHOBILINOGEN DEAMINASE; RNA; UROPORPHYRIN; PORPHYRIN;

ABDOMINAL PAIN; ACUTE INTERMITTENT PORPHYRIA; ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; DENATURING GRADIENT GEL ELECTROPHORESIS; ENZYME ACTIVITY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE INSERTION; GENE MUTATION; HEME SYNTHESIS; HUMAN; HUMAN CELL; ITALY; MALE; MISSENSE MUTATION; NEUROLOGIC DISEASE; NONSENSE MUTATION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; GENETIC HETEROGENEITY; GENETIC SCREENING; GENETICS; METABOLISM; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; POLYACRYLAMIDE GEL ELECTROPHORESIS; URINE;

INSERTION SEQUENCES;

ADOLESCENT; ADULT; AGED; DNA MUTATIONAL ANALYSIS; ELECTROPHORESIS, POLYACRYLAMIDE GEL; FEMALE; GENETIC HETEROGENEITY; GENETIC SCREENING; HUMANS; HYDROXYMETHYLBILANE SYNTHASE; ITALY; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PORPHYRIA, ACUTE INTERMITTENT; PORPHYRINS;

EID: 0035544702     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1006/bcmd.2001.0466     Document Type: Article

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