Publication
Kalman L, Wilson JA, Buller A, Dixon J, Edelmann L, Geller L, Highsmith WE, Holtegaard L, Kornreich R, Rohlfs EM, Payeur TL, Sellers T, Toji L, Muralidharan K, Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent The Journal of molecular diagnostics : JMD11:530-6 2009 |
PubMed ID: 19815695 |
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Records Return:
(30)
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Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
GM05106 | Female | 12 YR | 816 | sister | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 | GM |
GM05046 | Female | 51 YR | 810 | mother | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 | GM |
GM04408 | Male | 4 YR | 720 | proband | BLOOM SYNDROME; BLM | GM |
GM03770 | Male | 15 YR | 494 | proband | TAY-SACHS DISEASE; TSD | GM |
GM00059 | Female | 1 YR | 424 | proband | CANAVAN DISEASE | GM |
GM13205 | Female | 2 YR | 3450 | proband | NIEMANN-PICK DISEASE, TYPE A | GM |
GM00852 | Male | 20 YR | 2976 | proband | GAUCHER DISEASE, TYPE I | GM |
GM03403 | Male | 33 YR | 2863 | proband | BLOOM SYNDROME; BLM | GM |
GM02533 | Female | 2 YR | 229 | proband | MUCOLIPIDOSIS IV | GM |
GM08752 | Male | 1 YR | 2089 | proband | GAUCHER DISEASE, TYPE II | GM |
GM00449 | Female | 6 YR | 1578 | proband | FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC | GM |
GM11852 | Male | 1 YR | 1448 | proband | TAY-SACHS DISEASE; TSD | GM |
GM11468 | Female | 3 YR | 1399 | proband | GLYCOGEN STORAGE DISEASE I | GM |
GM11470 | Female | 25 YR | 1399 | mother | GLYCOGEN STORAGE DISEASE I | GM |
GM11471 | Male | 30 YR | 1399 | father | GLYCOGEN STORAGE DISEASE I | GM |
GM11215 | Male | 23 YR | 1376 | proband | GLYCOGEN STORAGE DISEASE I | GM |
GM10870 | Female | 63 YR | | proband | GAUCHER DISEASE, TYPE I | GM |
GM09787 | Female | 3 YR | | proband | TAY-SACHS DISEASE; TSD | GM |
GM03252 | Female | 21 FW | | proband | NIEMANN-PICK DISEASE, TYPE A | GM |
GM12794 | Female | 19 YR | | proband | FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC | GM |
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