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RNA-based mutation screening in German families with Sjögren-Larsson syndrome

✍ Scribed by Kraus, C; Braun-Quentin, C; Ballhausen, W G; Pfeiffer, R A


Book ID
110024948
Publisher
Nature Publishing Group
Year
2000
Tongue
English
Weight
334 KB
Volume
8
Category
Article
ISSN
1018-4813

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✍ A. Sillén; G. Holmgren; C. Wadelius 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 33 KB 👁 1 views

Sjögren-Larsson syndrome (SLS) is a rare, autosomal recessive disorder characterized by congenital ichthyosis, mental retardation, and spastic diplegia or tetraplegia. The disorder has the highest incidence in the north of Sweden and most of the cases are caused by a C943T mutation in the FALDH gene