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- Title
X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy.
- Authors
Wildin, R S; Ramsdell, F; Peake, J; Faravelli, F; Casanova, J L; Buist, N; Levy-Lahad, E; Mazzella, M; Goulet, O; Perroni, L; Bricarelli, F D; Byrne, G; McEuen, M; Proll, S; Appleby, M; Brunkow, M E
- Abstract
To determine whether human X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome (IPEX; MIM 304930) is the genetic equivalent of the scurfy (sf) mouse, we sequenced the human ortholog (FOXP3) of the gene mutated in scurfy mice (Foxp3), in IPEX patients. We found four non-polymorphic mutations. Each mutation affects the forkhead/winged-helix domain of the scurfin protein, indicating that the mutations may disrupt critical DNA interactions.
- Publication
Nature genetics, 2001, Vol 27, Issue 1, p18
- ISSN
1061-4036
- Publication type
Journal Article
- DOI
10.1038/83707