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S2012 Novel Mutations and Clinical Features in Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome

โœ Scribed by Knight, Crystal; Gambineri, Eleonora; Hackett, Mary J.; Anover-Sombke, Stephanie; Ochs, Hans D.; Torgerson, Troy R.


Book ID
121994719
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
90 KB
Volume
138
Category
Article
ISSN
0016-5085

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The immune dysregulation, polyendocrinop
โœ Ochs, Hans D.; Bennett, Craig L.; Christie, Jacinda; Ramsdell, Fred; Brunkow, Ma ๐Ÿ“‚ Article ๐Ÿ“… 2001 ๐Ÿ› Nature Publishing Group ๐ŸŒ English โš– 44 KB

The gene WAS, contained in this interval, was excluded as a candidate for IPEX (refs. 1,2). The scurfy syndrome in mice 3 shares phenotypic features with IPEX and maps to a region of conserved synteny on the mouse X chromosome. Human and mouse FOXP3 were recently identified by positional cloning and