A new mutation within the porphobilinogen deaminase gene leading to a truncated protein as a cause of acute intermittent porphyria in an extended indian family

Folia Biologica

Volumn 53, Issue 6, 2007, Pages 194-201

  Flachsova E ^a   Verma, I C ^b   Ulbrichova D ^a   Saxena, R ^b   Zeman, J ^a   Saudek, V ^c   Raman, C S ^d   Martásek, Pavel ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

^b SIR GANGA RAM HOSPITAL   (India)

^c Charles University in Prague and General University Hospital in Prague   (Czech Republic)

^d UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

Author keywords

973insG mutation; Acute intermittent porphyria; Exon 15; OMIM 176000; Porphobilinogen deaminase

Indexed keywords

GENOMIC DNA; HEME ARGINATE; PORPHOBILINOGEN DEAMINASE;

ABDOMINAL PAIN; ACCESS TO INFORMATION; ADULT; ARTICLE; CLINICAL ARTICLE; EXON; GENE EXPRESSION; GENE INSERTION; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; HUMAN; INDIAN; INTERNET; MALE; MEDICAL INFORMATION; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PORPHYRIA; PROTEIN FUNCTION; PROTEIN STABILITY; SELF EVALUATION; SELF HELP; SEQUENCE ANALYSIS; STOP CODON; WILD TYPE;

PROKARYOTA;

EID: 37348999932     PISSN: 00155500     EISSN: 25337602     Source Type: Journal    
DOI: None     Document Type: Article

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