Article
Arg452 substitution of the erythroid-specific 5-aminolaevulinate synthase, a hot spot mutation in X-linked sideroblastic anaemia, does not itself affect enzyme activity.
European journal of haematology - 1 Jan 2006
Furuyama Kazumichi, Harigae Hideo, Heller Tom, Hamel Ben C J, Minder Elisabeth I, Shimizu Toru, Kuribara Tadao, Blijlevens Nicole, Shibahara Shigeki, Sassa Shigeru
Abstract excerpt
Mutations of the erythroid-specific 5-aminolaevulinate synthase (ALAS2) gene are known to be responsible for X-linked sideroblastic anaemia (XLSA). An amino acid (AA) substitution for arginine at the 452 AA position of the ALAS2 protein is the most frequent mutation, which has been found in approximately one-quarter of patients with XLSA. Despite its high frequency, there has been no report on the enzymatic...
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