Article
X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy.
Nature genetics - 1 Jan 2001
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 excerpt
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-po...
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