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

5 Citations (Scopus)

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

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Adrenoleukodystrophy
Missense Mutation
Exons
Genes
Protein Domains

Keywords

  • Adrenoleukodystrophy
  • Missense mutations

ASJC Scopus subject areas

  • Cell Biology
  • Molecular Biology

Cite this

Two novel missense mutations causing adrenoleukodystrophy in Italian patients. / Perusi, C.; Gomez-Lira, Macarena; Mottes, M.; Pignatti, P. F.; Bertini, E.; Cappa, M.; Vigliani, M. C.; Schiffer, D.; Rizzuto, N.; Salviati, A.

In: Molecular and Cellular Probes, Vol. 13, No. 3, 06.1999, p. 179-182.

Research output: Contribution to journalArticle

Perusi, C, Gomez-Lira, M, Mottes, M, Pignatti, PF, Bertini, E, Cappa, M, Vigliani, MC, Schiffer, D, Rizzuto, N & Salviati, A 1999, 'Two novel missense mutations causing adrenoleukodystrophy in Italian patients', Molecular and Cellular Probes, vol. 13, no. 3, pp. 179-182. https://doi.org/10.1006/mcpr.1999.0232
Perusi, C. ; Gomez-Lira, Macarena ; Mottes, M. ; Pignatti, P. F. ; Bertini, E. ; Cappa, M. ; Vigliani, M. C. ; Schiffer, D. ; Rizzuto, N. ; Salviati, A. / Two novel missense mutations causing adrenoleukodystrophy in Italian patients. In: Molecular and Cellular Probes. 1999 ; Vol. 13, No. 3. pp. 179-182.
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