Identification and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent porphyria (AIP)

Molecular Medicine

Volumn 5, Issue 10, 1999, Pages 664-671

  Solis, C ^a   Lopez Echaniz, I ^a   Sefarty Graneda, D ^a   Astrin, K H ^a   Desnick, R J ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

HEME; PORPHOBILINOGEN DEAMINASE;

ACUTE INTERMITTENT PORPHYRIA; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DNA DETERMINATION; ENZYME ACTIVITY; FEMALE; GENE ACTIVITY; GENE AMPLIFICATION; GENE EXPRESSION; GENE ISOLATION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL;

EID: 0033276657     PISSN: 10761551     EISSN: None     Source Type: Journal    
DOI: 10.1007/bf03401985     Document Type: Article

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