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

M. G. Lira, M. Mottes, P. F. Pignatti, I. Medica, G. Uziel, M. Cappa, E. Bertini, N. Rizzuto, A. Salviati

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)271
Number of pages1
JournalHuman Mutation
Volume16
Issue number3
Publication statusPublished - Sep 2000

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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