Article
Functional analysis of the 5' regulatory region of the 5-aminolevulinate synthase (ALAS1) gene in response to estrogen.
Cellular and molecular biology (Noisy-le-Grand, France) - 1 Jul 2009
du Plessis N, Kimberg M, Zaahl M G, Sadie A, Venter M, van der Merwe L, Louw A, Warnich L
Abstract excerpt
Genetic defects in the heme synthesis enzymes lead to a group of heterogeneous disorders termed the porphyrias. Numerous factors influence the clinical expression of porphyrias, primarily by altering the rate of heme synthesis. To date, no genotype-phenotype correlation has been made to explain the variable penetrance observed in variegate porphyria (VP) and other acute hepatic porphyrias. As first and rate...
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