Publication

Herzing LB, Cook Jr EH Jr, Ledbetter DH, Allele-specific expression analysis by RNA-FISH demonstrates preferential maternal expression of UBE3A and imprint maintenance within 15q11- q13 duplications. Hum Mol Genet11(15):1707-18 2002
PubMed ID: 12095913

Records Return:  (4) Show
 
Catalog IDGenderAge at SamplingFamilyRelationshipDescription
GM00242Female1 WK491siblingMAPLE SYRUP URINE DISEASE (MSUD), TYPE IA
GM00118Female29 YR probandTRANSLOCATED CHROMOSOME
GM05565Male3 YR probandAPPARENTLY HEALTHY NON-FETAL TISSUE
GM02729Male15 YR probandTRANSLOCATED CHROMOSOME