Characterization of two missense variants in the hydroxymethylbilane synthase gene in the Israeli population, which differ in their associations with acute intermittent porphyria

Molecular Genetics and Metabolism

Volumn 94, Issue 3, 2008, Pages 343-346

  Schneider Yin, Xiaoye ^a   Ulbrichova, Dana ^b   Mamet, Rivka ^c   Martasek, Pavel ^b   Marohnic, Christopher C ^d   Goren, Avner ^e   Minder, Elisabeth I ^a   Schoenfeld, Nili ^c,f  

^a Zentrallabor   (Switzerland)

^b CHARLES UNIVERSITY   (Czech Republic)

^c RABIN MEDICAL CENTER   (Israel)

^d UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER AT SAN ANTONIO   (United States)

^e SHEBA MEDICAL CENTER   (Israel)

^f TEL AVIV UNIVERSITY   (Israel)

Author keywords

Acute intermittent porphyria; Hydroxymethylbilane synthase; In vitro expression; Missense mutation

Indexed keywords

HEME; PORPHOBILINOGEN DEAMINASE;

ACUTE INTERMITTENT PORPHYRIA; ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CLINICAL FEATURE; ENZYMATIC ASSAY; FEMALE; GENETIC POLYMORPHISM; GENOTYPE PHENOTYPE CORRELATION; HEME SYNTHESIS; HUMAN; ISRAEL; JEW; MICHAELIS MENTEN KINETICS; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PROTEIN EXPRESSION;

ADOLESCENT; ADULT; CASE-CONTROL STUDIES; DNA MUTATIONAL ANALYSIS; ENZYME STABILITY; FAMILY; FEMALE; HUMANS; HYDROXYMETHYLBILANE SYNTHASE; ISRAEL; LINKAGE (GENETICS); MUTATION, MISSENSE; PORPHYRIA, ACUTE INTERMITTENT; RECOMBINANT PROTEINS;

PROKARYOTA;

EID: 44949100267     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2008.03.001     Document Type: Article

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