Payeur, TL; Sellers, T; Toji, L; Muralidharan, KAutism-Associated Haplotype Affects the Regulation of the Homeobox Gene, ENGRAILED 2Biological Psychiatry, November 2009 Benayed, R; Choi, J; Matteson, PG; Gharani, N; Kamdar, S; BrzustoqDevelopment and Characterization of Reference Materials for MTHFR, SERPINA1, RET, BRCA1
with affected enzyme activity.Pathway View specific cellular pathways and corresponding NIGMS samples with characterized mutations in implicated pathway components.Cell Pathways DiagramFanconi/BRCA1/BRCA2/ATM/NBS1 PathwaysGlycogen Storage Diseases PathwayCatabolic Pathway for Glycosphingolipids and Associated Storage
the NIGMS Repository Staff at NIGMS@coriell.org. See the NIGMS Repository Assurance form for an explanation of appropriate use of the reference materials.Referenced PublicationsBarker, et al. Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing. J Mol Diagn
MTHFR, SERPINA1, RET, BRCA1, and BRCA2 Reference Material7 Coriell Cell line # Cell Type Disorder Gene Confirmed Genotype: Characterization Methods: Allele 11 Allele 21
MTHFR, SERPINA1, RET, BRCA1, and BRCA2 Reference Material Coriell Cell line # Cell Type Disorder Gene Confirmed Genotype: Characterization Methods: Allele 11 Allele 21
