Publication

Bleasby K, Hall LA, Perry JL, Mohrenweiser HW, Pritchard JB, Functional consequences of single nucleotide polymorphisms in the human organic anion transporter hOAT1 (SLC22A6) The Journal of pharmacology and experimental therapeutics314:923-31 2005
PubMed ID: 15914676

Records Return:  (72) Show
 
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Catalog IDGenderAge at SamplingFamilyRelationshipDescription
GM09146Female2 YR970maternal cousinFRAGILE X MENTAL RETARDATION SYNDROME
GM08779Female25 YR924motherHEMOGLOBIN--BETA LOCUS; HBB
GM06201Female20 YR923motherSEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY
GM14661Female20 YR1816probandAPPARENTLY HEALTHY NON-FETAL TISSUE
GM14672Female19 YR1815probandAPPARENTLY HEALTHY NON-FETAL TISSUE
GM14698Female22 YR1814sisterAPPARENTLY HEALTHY INDIVIDUALS WITH A BODY MASS INDEX (BMI) WITHIN NORMAL RANGE; NON-OBESE CONTROLS
GM14682Female24 YR1813probandAPPARENTLY HEALTHY NON-FETAL TISSUE
GM12930Female30 YR1546motherGLYCOGEN STORAGE DISEASE II
GM12909Female 1477paternal grandmotherCEPH/UTAH PEDIGREE 1477
GM12841Female 1458paternal grandmotherCEPH/UTAH PEDIGREE 1458
GM12813Female 1454paternal grandmotherCEPH/UTAH PEDIGREE 1454
GM12749Female 1444paternal grandmotherCEPH/UTAH PEDIGREE 1444
GM12273Female 1418paternal grandmotherCEPH/UTAH PEDIGREE 1418
GM10831Female 1408motherCEPH/UTAH PEDIGREE 1408
GM11993Female 1362paternal grandmotherCEPH/UTAH PEDIGREE 1362
GM10849Female 1332motherCEPH/UTAH PEDIGREE 1332
GM10176Male25 YR1167fatherTRANSLOCATED CHROMOSOME
GM07555Female 1047sisterCYSTIC FIBROSIS; CF
M24PDR    POLYMORPHISM DISCOVERY RESOURCE - PANEL OF 24
GM13911Female51 YR probandRUSSIAN - ZVERSKY DISTRICT NORTHEAST OF MOSCOW