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

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 journal › Article › peer-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 language	English
Pages (from-to)	271
Number of pages	1
Journal	Human Mutation
Volume	16
Issue number	3
Publication status	Published - Sep 2000

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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

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.",

author = "Lira, {M. G.} and M. Mottes and Pignatti, {P. F.} and I. Medica and G. Uziel and M. Cappa and E. Bertini and N. Rizzuto and A. Salviati",

year = "2000",

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T1 - Detection of mutations in the ALD gene (ABCD1) in seven Italian families

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AU - Lira, M. G.

AU - Mottes, M.

AU - Pignatti, P. F.

AU - Medica, I.

AU - Uziel, G.

AU - Cappa, M.

AU - Bertini, E.

AU - Rizzuto, N.

AU - Salviati, A.

PY - 2000/9

Y1 - 2000/9

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AB - 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.

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