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Identification of a IVS4-58delATG polymorphism in the human phosphomannomutase 2 (PMM2) gene.
Hum Mutat. 2000 May;15(5):486. doi: 10.1002/(SICI)1098-1004(200005)15:5<486::AID-HUMU24>3.0.CO;2-V.
Hum Mutat. 2000.
PMID: 10790224
No abstract available.
Detection of an Alu insertion in the POMT1 gene from three French Walker Warburg syndrome families.
Bouchet C, Vuillaumier-Barrot S, Gonzales M, Boukari S, Bizec CL, Fallet C, Delezoide AL, Moirot H, Laquerriere A, Encha-Razavi F, Durand G, Seta N.
Bouchet C, et al. Among authors: bizec cl.
Mol Genet Metab. 2007 Jan;90(1):93-6. doi: 10.1016/j.ymgme.2006.09.005. Epub 2006 Oct 31.
Mol Genet Metab. 2007.
PMID: 17079174
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No Mutation in the SLC2A3 Gene in Cohorts of GLUT1 Deficiency Syndrome-Like Patients Negative for SLC2A1 and in Patients with AHC Negative for ATP1A3.
Bizec CL, Nicole S, Panagiotakaki E, Seta N, Vuillaumier-Barrot S.
Bizec CL, et al.
JIMD Rep. 2014;12:115-20. doi: 10.1007/8904_2013_253. Epub 2013 Sep 4.
JIMD Rep. 2014.
PMID: 24002817
Free PMC article.
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