Genotype and phenotype variability in Sjögren‐Larsson syndrome

The Sjögren–Larsson syndrome (SLS) is a rare autosomal recessive disorder caused by pathogenic variants in the ALDH3A2 gene, which codes for fatty aldehyde dehydrogenase (FALDH). FALDH prevents the accumulation of toxic fatty aldehydes by converting them into fatty acids. Pathogenic ALDH3A2 variants...

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Detalles Bibliográficos
Autores principales: Weustenfeld, Maximilian, Eidelpes, Reiner, Schmuth, Matthias, Rizzo, William B., Zschocke, Johannes, Keller, Markus A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Databases
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6587760/
https://www.ncbi.nlm.nih.gov/pubmed/30372562
http://dx.doi.org/10.1002/humu.23679

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6587760/
https://www.ncbi.nlm.nih.gov/pubmed/30372562
http://dx.doi.org/10.1002/humu.23679

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