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

✍ Scribed by M. Gomez Lira; M. Mottes; P.F. Pignatti; I. Medica; G. Uziel; M. Cappa; E. Bertini; N. Rizzuto; A. Salviati

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 57 KB
Volume: 16
Category: Article
ISSN: 1059-7794
DOI: 10.1002/1098-1004(200009)16:3<271::aid-humu15>3.0.co;2-d

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✦ Synopsis

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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