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Page 1
A homozygous mutation in MSH6 causes Turcot syndrome.
Hegde MR, Chong B, Blazo ME, Chin LH, Ward PA, Chintagumpala MM, Kim JY, Plon SE, Richards CS. Hegde MR, et al. Among authors: plon se. Clin Cancer Res. 2005 Jul 1;11(13):4689-93. doi: 10.1158/1078-0432.CCR-04-2025. Clin Cancer Res. 2005. PMID: 16000562
Screening for 185delAG in the Ashkenazim.
Richards CS, Ward PA, Roa BB, Friedman LC, Boyd AA, Kuenzli G, Dunn JK, Plon SE. Richards CS, et al. Among authors: plon se. Am J Hum Genet. 1997 May;60(5):1085-98. Am J Hum Genet. 1997. PMID: 9150156 Free PMC article.
FBN1 exon 2 splicing error in a patient with Marfan syndrome.
Guo D, Tan FK, Cantu A, Plon SE, Milewicz DM. Guo D, et al. Among authors: plon se. Am J Med Genet. 2001 Jun 15;101(2):130-4. doi: 10.1002/1096-8628(20010615)101:2<130::aid-ajmg1333>3.0.co;2-v. Am J Med Genet. 2001. PMID: 11391655
250 results