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Genetics and prospective therapeutic targets for Sjögren-Larsson Syndrome

INTRODUCTION: Sjögren-Larsson syndrome (SLS) is a rare neurocutaneous disease characterized by ichthyosis, spasticity, intellectual disability and a distinctive retinopathy. It is caused by inactivating mutations in ALDH3A2, which codes for fatty aldehyde dehydrogenase (FALDH) and results in abnorma...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Veröffentlicht in:Expert Opin Orphan Drugs
1. Verfasser: Rizzo, William B.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2016
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4989507/
https://ncbi.nlm.nih.gov/pubmed/27547594
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1517/21678707.2016.1154453
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