Article
Transmission of Angelman syndrome by an affected mother.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2000
Lossie A C, Driscoll D J
Abstract excerpt
PURPOSE: To determine: 1) If a 15q11-13 deletion was transmitted from a female with Angelman syndrome to her fetus, and 2) If the UBE3A gene was functionally imprinted in fetal eye. METHODS: Individuals were genotyped by microsatellite analysis. DNA methylation imprints were assessed by Southern...
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