𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Detailed Genetic and Physical Mapping in the Sjögren-Larsson Syndrome Gene Region in 17p11.2

✍ Scribed by Anna Sillén; Anders Alderborn; Maritta Pigg; Sten Jagell; Claes Wadelius


Book ID
114810055
Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
548 KB
Volume
128
Category
Article
ISSN
0018-0661

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Sjögren-Larsson syndrome: Diversity of m
✍ William B. Rizzo; Gael Carney 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 228 KB

## Communicated by Jan P. Kraus Sjo ¨gren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, and spastic diplegia or tetraplegia. The disease is caused by mutations in the ALDH3A2 gene (also known as FALDH and ALDH10) on chromosome 17p11.2 th

Detailed physical and genetic mapping in
✍ R. D. Cox; J. Whittington; A. Shedlovsky; C. S. Connelly; W. F. Dove; M. Goldswo 📂 Article 📅 1993 🏛 Springer-Verlag 🌐 English ⚖ 836 KB

We present here a detailed physical map encompassing over 600 kb of mouse Chromosome (Chr) 17 in the region of plasminogen, D17Rp17e, and quaking. This region is cloned in yeast artificial chromosomes (YACs). We have identified several CpG islands within this region from pulsed field gel mapping of

Sjögren-Larsson syndrome: Seven novel mu
✍ Gael Carney; Shu Wei; William B. Rizzo 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 319 KB

Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disease caused by mutations in the ALDH3A2 gene that codes for fatty aldehyde dehydrogenase (FALDH), an enzyme involved in lipid metabolism. We performed mutation analysis in probands or fetuses from 13 unrelated SLS families and identifi

Spectrum of mutations and sequence varia
✍ Anna Sillén; Ingrun Anton-Lamprecht; Cordula Braun-Quentin; Cornelia S. Kraus; B 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 265 KB 👁 2 views

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 he