Article
Discordant phenotypes in first cousins with UBE3A frameshift mutation.
American journal of medical genetics. Part A - 15 Jun 2004
Molfetta G A, Muñoz M V R, Santos A C, Silva W A, Wagstaff J, Pina-Neto J M
Abstract excerpt
Mutations have been found in the UBE3A gene (E6-AP ubiquitin protein ligase gene) in many Angelman syndrome (AS) patients with no deletion, no uniparental disomy, and no imprinting defect. UBE3A mutations are more frequent in familial than in sporadic patients and the mutations described so far seem to cause similar phenotypes in the familial affected cases. Here we describe two first cousins who have inherited...
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