Publication

Barker SD, Bale S, Booker J, Buller A, Das S, Friedman K, Godwin AK, Grody WW, Highsmith E, Kant JA, Lyon E, Mao R, Monaghan KG, Payne DA, Pratt VM, Schrijver I, Shrimpton AE, Spector E, Telatar M, Toji L, Weck K, Zehnbauer B, Kalman LV, Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing The Journal of molecular diagnostics : JMD11:553-61 2009
PubMed ID: 19767587

Records Return:  (10) Show
 
Catalog IDGenderAge at SamplingFamilyRelationshipDescription
GM03579Female31 YR209motherPROTEASE INHIBITOR 1; PI
GM03578Female3 YR209probandPROTEASE INHIBITOR 1; PI
GM16660Male57 YR1969probandMULTIPLE ENDOCRINE NEOPLASIA, TYPE II; MEN2
GM16658Female64 YR1968probandMULTIPLE ENDOCRINE NEOPLASIA, TYPE II; MEN2
GM20835Female60 YR probandPROTEASE INHIBITOR 1; PI
GM13715Female56 YR probandBREAST CANCER, TYPE 1; BRCA1
GM14170Female46 YR probandBREAST CANCER 2, EARLY-ONSET; BRCA2
GM20730Female44 YR proband5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR
GM14090Female43 YR probandBREAST CANCER, TYPE 1; BRCA1
GM20918Male21 YR probandPROTEASE INHIBITOR 1; PI