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PMM2 intronic branch-site mutations in CDG-Ia.
Vuillaumier-Barrot S, Le Bizec C, De Lonlay P, Madinier-Chappat N, Barnier A, Dupré T, Durand G, Seta N. Vuillaumier-Barrot S, et al. Among authors: madinier chappat n. Mol Genet Metab. 2006 Apr;87(4):337-40. doi: 10.1016/j.ymgme.2005.10.015. Epub 2005 Dec 20. Mol Genet Metab. 2006. PMID: 16376131
Can Hutchinson-Gilford progeria syndrome be a neonatal condition?
Faivre L, Khau Van Kien P, Madinier-Chappat N, Nivelon-Chevallier A, Beer F, LeMerrer M. Faivre L, et al. Among authors: madinier chappat n. Am J Med Genet. 1999 Dec 22;87(5):450-2; author reply 453-4. doi: 10.1002/(sici)1096-8628(19991222)87:5<450::aid-ajmg16>3.0.co;2-t. Am J Med Genet. 1999. PMID: 10594888 No abstract available.