Article
Detection of mutations in the ALD gene (ABCD1) in seven Italian families: description of four novel mutations.
Human mutation - 1 Sept 2000
Lira M G, Mottes M, Pignatti P F, Medica I, Uziel G, Cappa M, Bertini E, Rizzuto N, Salviati A
Abstract excerpt
The study describes the mutations causing adrenoleukodystrophy in seven Italian families. Four missense mutations leading to amino acid substitutions, two frameshift mutations leading to a premature termination signal, and a splicing mutation were identified. Mutations 2014C>T (P543L), 2053A>G (Q556A), 673-674insCC, and 1874+1G>A are described for the first time in this report. Mutations 1638C>T (R418W),...
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