Molecular analysis of acute intermittent porphyria: Mutation screening in 20 patients in Germany reveals 11 novel mutations

Blood Cells, Molecules, and Diseases

Volumn 32, Issue 2, 2004, Pages 309-314

  Von Brasch, Léon ^a,b   Zang, Chuanbing ^a   Haverkamp, Thomas ^c   Schlechte, Horst ^a   Heckers, Herbert ^d   Petrides, Petro E ^a,b  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b Hematology Oncology Center   (Germany)

^c Laboratory Medicine Dortmund   (Germany)

^d JUSTUS LIEBIG UNIVERSITY   (Germany)

Author keywords

Acute intermittent porphyria; AIP; Mutation analysis

Indexed keywords

DNA; HEME; PORPHOBILINOGEN DEAMINASE;

ACUTE INTERMITTENT PORPHYRIA; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CONTROLLED STUDY; DISEASE CARRIER; DNA SCREENING; EARLY DIAGNOSIS; ENZYME DEFICIENCY; EXON; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENOTYPE; HUMAN; INTRON; MALE; PRIORITY JOURNAL; PROPHYLAXIS; SYMPTOMATOLOGY;

EID: 1542360763     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2003.12.003     Document Type: Article

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