Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome.

@article{Silln1998SpectrumOM,
  title={Spectrum of mutations and sequence variants in the FALDH gene in patients with Sj{\"o}gren-Larsson syndrome.},
  author={Anna Sill{\'e}n and Ingrun Anton-Lamprecht and Cordula Braun-Quentin and Cornelia Kraus and Bekir Sitki Şayli and Carmen Ayuso and Sten Jagell and Wolfgang K{\"u}ster and Claes Wadelius},
  journal={Human mutation},
  year={1998},
  volume={12 6},
  pages={377-84}
}
The gene encoding the human fatty aldehyde dehydrogenase (FALDH) is located on 17p11.2, causing Sjögren-Larsson syndrome (SLS) when mutated. SLS is an autosomal recessive disorder characterized by a combination of mental retardation, congenital ichthyosis, and spastic di- or tetraplegia. We report here on studies of 16 SLS families from Europe and the Middle East, which resulted in identification of 11 different mutations. The spectrum of mutations characterized in the present study are five… CONTINUE READING

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