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Familial cryptic translocation resulting in Angelman syndrome:implications for imprinting or location of the Angelman gene?
(East Carolina University, 1996-04)
Angelman syndrome (AS) is associated with a loss of maternal genetic information, which typically occurs as a result of a deletion at 15ql1-q13 or paternal uniparental disomy of chromosome 15. We report a patient with AS ...