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

Records Return:  (30) Show
 
12
Catalog IDGenderAge at SamplingFamilyRelationshipDescription
GM05106Female12 YR816sisterNEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3
GM05046Female51 YR810motherNEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3
GM04408Male4 YR720probandBLOOM SYNDROME; BLM
GM03770Male15 YR494probandTAY-SACHS DISEASE; TSD
GM00059Female1 YR424probandCANAVAN DISEASE
GM00852Male20 YR2976probandGAUCHER DISEASE, TYPE I
GM03403Male33 YR2863probandBLOOM SYNDROME; BLM
GM02533Female2 YR229probandMUCOLIPIDOSIS IV
GM08752Male1 YR2089probandGAUCHER DISEASE, TYPE II
GM00449Female6 YR1578probandFANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC
GM11852Male1 YR1448probandTAY-SACHS DISEASE; TSD
GM11468Female3 YR1399probandGLYCOGEN STORAGE DISEASE I
GM11470Female25 YR1399motherGLYCOGEN STORAGE DISEASE I
GM11471Male30 YR1399fatherGLYCOGEN STORAGE DISEASE I
GM11215Male23 YR1376probandGLYCOGEN STORAGE DISEASE I
GM10870Female63 YR probandGAUCHER DISEASE, TYPE I
GM09787Female3 YR probandTAY-SACHS DISEASE; TSD
GM03252Female21 FW probandNIEMANN-PICK DISEASE, TYPE B
GM13205Female2 YR probandNIEMANN-PICK DISEASE, TYPE A
GM12794Female19 YR probandFANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC