Sjögren-Larsson syndrome in Brazil is caused by a common c.1108-1G → C splice-site mutation in the ALDH3A2 gene

M. P. Auada, M. B. Puzzi, M. L. Cintra, C. E. Steiner, F. Alexandrino, E. L. Sartorato, T. S. Aguiar, R. D. Azulay, G. Carney, William B Rizzo

Research output: Contribution to journalArticle

11 Citations (Scopus)
Original languageEnglish (US)
Pages (from-to)770-773
Number of pages4
JournalBritish Journal of Dermatology
Volume154
Issue number4
DOIs
StatePublished - Apr 1 2006

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long-chain-aldehyde dehydrogenase
Aldehyde Oxidoreductases
Sjogren-Larsson Syndrome
Ichthyosis
RNA Splice Sites
Genetic Testing
Preschool Children
Brazil
Mutation
Genes

Keywords

  • Fatty aldehyde dehydrogenase
  • Ichthyosis
  • Mutation
  • Sjögren-Larsson syndrome

ASJC Scopus subject areas

  • Dermatology

Cite this

Sjögren-Larsson syndrome in Brazil is caused by a common c.1108-1G → C splice-site mutation in the ALDH3A2 gene. / Auada, M. P.; Puzzi, M. B.; Cintra, M. L.; Steiner, C. E.; Alexandrino, F.; Sartorato, E. L.; Aguiar, T. S.; Azulay, R. D.; Carney, G.; Rizzo, William B.

In: British Journal of Dermatology, Vol. 154, No. 4, 01.04.2006, p. 770-773.

Research output: Contribution to journalArticle

Auada, MP, Puzzi, MB, Cintra, ML, Steiner, CE, Alexandrino, F, Sartorato, EL, Aguiar, TS, Azulay, RD, Carney, G & Rizzo, WB 2006, 'Sjögren-Larsson syndrome in Brazil is caused by a common c.1108-1G → C splice-site mutation in the ALDH3A2 gene', British Journal of Dermatology, vol. 154, no. 4, pp. 770-773. https://doi.org/10.1111/j.1365-2133.2006.07135.x
Auada, M. P. ; Puzzi, M. B. ; Cintra, M. L. ; Steiner, C. E. ; Alexandrino, F. ; Sartorato, E. L. ; Aguiar, T. S. ; Azulay, R. D. ; Carney, G. ; Rizzo, William B. / Sjögren-Larsson syndrome in Brazil is caused by a common c.1108-1G → C splice-site mutation in the ALDH3A2 gene. In: British Journal of Dermatology. 2006 ; Vol. 154, No. 4. pp. 770-773.
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