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), 1588G>A(R401Q), and 1801-1802delAG are already known to be link to ALD.

Detection of mutations in the ALD gene (ABCD1) in seven Italian families: description of four novel mutations

GOMEZ, Maria Macarena;MOTTES, Monica;PIGNATTI, Pierfranco;RIZZUTO, Nicolo';SALVIATI, Alessandro
2000

Abstract

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), 1588G>A(R401Q), and 1801-1802delAG are already known to be link to ALD.
adrenoleukodystrophy; ALD; ABCD1; adrenomyeloneuropathy; AMN; Addison disease; Italy
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11562/13736
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