A family harboring an MLKL loss of function variant implicates impaired necroptosis in diabetes

<p>Maturity-onset diabetes of the young, MODY, is an autosomal dominant disease with incomplete penetrance. In a family with multiple generations of diabetes and several early onset diabetic siblings, we found the previously reported P33T PDX1 damaging mutation. Interestingly, this substitutio...

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Main Author: Joanne M. Hildebrand (9407235) (author)
Other Authors: Bernice Lo (3441317) (author), Sara Tomei (3441323) (author), Valentina Mattei (6561395) (author), Samuel N. Young (14152599) (author), Cheree Fitzgibbon (9407253) (author), James M. Murphy (448752) (author), Abeer Fadda (170269) (author)
Published: 2021
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