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Deficiency of UBE2T, the E2 Ubiquitin Ligase Necessary for FANCD2 and FANCI Ubiquitination, Causes FA-T Subtype of Fanconi Anemia.
Rickman KA, Lach FP, Abhyankar A, Donovan FX, Sanborn EM, Kennedy JA, Sougnez C, Gabriel SB, Elemento O, Chandrasekharappa SC, Schindler D, Auerbach AD, Smogorzewska A. Rickman KA, et al. Among authors: auerbach ad. Cell Rep. 2015 Jul 7;12(1):35-41. doi: 10.1016/j.celrep.2015.06.014. Epub 2015 Jun 25. Cell Rep. 2015. PMID: 26119737 Free PMC article.
Fanconi anemia.
Auerbach AD. Auerbach AD. Dermatol Clin. 1995 Jan;13(1):41-9. Dermatol Clin. 1995. PMID: 7712649 Review.
Sequence variation in the Fanconi anemia gene FAA.
Levran O, Erlich T, Magdalena N, Gregory JJ, Batish SD, Verlander PC, Auerbach AD. Levran O, et al. Among authors: auerbach ad. Proc Natl Acad Sci U S A. 1997 Nov 25;94(24):13051-6. doi: 10.1073/pnas.94.24.13051. Proc Natl Acad Sci U S A. 1997. PMID: 9371798 Free PMC article.
The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia.
Levran O, Attwooll C, Henry RT, Milton KL, Neveling K, Rio P, Batish SD, Kalb R, Velleuer E, Barral S, Ott J, Petrini J, Schindler D, Hanenberg H, Auerbach AD. Levran O, et al. Among authors: auerbach ad. Nat Genet. 2005 Sep;37(9):931-3. doi: 10.1038/ng1624. Epub 2005 Aug 21. Nat Genet. 2005. PMID: 16116424
322 results