Two novel missense mutations causing adrenoleukodystrophy in Italian patients

C. Perusi, Macarena Gomez-Lira, M. Mottes, P. F. Pignatti, E. Bertini, M. Cappa, M. C. Vigliani, D. Schiffer, N. Rizzuto, A. Salviati

Research output: Contribution to journalArticle

Abstract

The authors present two new missense mutations in exon 1 of the adrenoleukodystrophy (ALD) gene. The first, a C813T transition, results in the substitution Pro143 Ser in the third putative transmembrane domain of the adrenoleukodystrophy protein (ALDP) in an adult onset case. The second, a de novo C709T transition, results in a substitution Ser 108 Leu between the second and the third putative transmembrane segments, in a childhood case.

Original languageEnglish
Pages (from-to)179-182
Number of pages4
JournalMolecular and Cellular Probes
Volume13
Issue number3
DOIs
Publication statusPublished - Jun 1999

Keywords

  • Adrenoleukodystrophy
  • Missense mutations

ASJC Scopus subject areas

  • Cell Biology
  • Molecular Biology

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    Perusi, C., Gomez-Lira, M., Mottes, M., Pignatti, P. F., Bertini, E., Cappa, M., Vigliani, M. C., Schiffer, D., Rizzuto, N., & Salviati, A. (1999). Two novel missense mutations causing adrenoleukodystrophy in Italian patients. Molecular and Cellular Probes, 13(3), 179-182. https://doi.org/10.1006/mcpr.1999.0232