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 |
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| Records Return:
(10)
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| Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
| GM03579 | Female | 31 YR | 209 | mother | ALPHA-1-ANTITRYPSIN DEFICIENCY; A1ATD | GM |
| GM03578 | Female | 3 YR | 209 | proband | ALPHA-1-ANTITRYPSIN DEFICIENCY; A1ATD | GM |
| GM16660 | Male | 57 YR | 1969 | proband | MULTIPLE ENDOCRINE NEOPLASIA, TYPE II; MEN2 | GM |
| GM16658 | Female | 64 YR | 1968 | proband | MULTIPLE ENDOCRINE NEOPLASIA, TYPE II; MEN2 | GM |
| GM20835 | Female | 60 YR | | proband | ALPHA-1-ANTITRYPSIN DEFICIENCY; A1ATD | GM |
| GM13715 | Female | 56 YR | | proband | BREAST CANCER, TYPE 1; BRCA1 | GM |
| GM14170 | Female | 46 YR | | proband | BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BROVCA2 | GM |
| GM20730 | Female | 44 YR | | proband | 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR | GM |
| GM14090 | Female | 43 YR | | proband | BREAST CANCER, TYPE 1; BRCA1 | GM |
| GM20918 | Male | 21 YR | | proband | ALPHA-1-ANTITRYPSIN DEFICIENCY; A1ATD | GM |
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