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 |
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Records Return:
(4)
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Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
GM00242 | Female | 1 WK | 491 | sibling | MAPLE SYRUP URINE DISEASE (MSUD), TYPE IA | GM |
GM00118 | Female | 29 YR | | proband | TRANSLOCATED CHROMOSOME | GM |
GM05565 | Male | 3 YR | | proband | APPARENTLY HEALTHY INDIVIDUAL | GM |
GM02729 | Male | 15 YR | | proband | TRANSLOCATED CHROMOSOME | GM |
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