| Literature DB >> 11137992 |
R S Wildin1, F Ramsdell, J Peake, F Faravelli, J L Casanova, N Buist, E Levy-Lahad, M Mazzella, O Goulet, L Perroni, F D Bricarelli, G Byrne, M McEuen, S Proll, M Appleby, M E Brunkow.
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.Entities:
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Year: 2001 PMID： 11137992 DOI： 10.1038/83707
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330