Acute intermittent porphyria: Novel missense mutations in the human hydroxymethylbilane synthase gene

Genetics in Medicine

Volumn 2, Issue 5, 2000, Pages 290-295

  Ramdall, Risha B ^a   Cunha, Luis ^a   Astrin, Kenneth H ^a   Katz, David R ^a   Anderson, Karl E ^b   Glucksman, Marc ^a   Bottomley, Sylvia S ^c   Desnick, Robert J ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b University of Texas Medical Branch School of Medicine   (United States)

^c UNIVERSITY OF OKLAHOMA COLLEGE OF MEDICINE   (United States)

Author keywords

Acute intermittent porphyria; HMB synthase; Hydroxymethylbilane synthase; Molecular diagnosis; Porphobilinogen deaminase

Indexed keywords

COMPLEMENTARY DNA; PORPHOBILINOGEN DEAMINASE;

ACUTE INTERMITTENT PORPHYRIA; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; DOT HYBRIDIZATION; ENZYME ACTIVITY; EXPRESSION VECTOR; FAMILIAL DISEASE; GENE; GENE EXPRESSION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC HETEROGENEITY; HETEROZYGOTE DETECTION; HUMAN; MISSENSE MUTATION; POLYMERASE CHAIN REACTION;

EID: 0033763680     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/00125817-200009000-00004     Document Type: Article

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