Mutation screening and association study of the UBE2H gene on chromosome 7q32 in autistic disorder.

Abstract excerpt

Autistic disorder is a severe neurodevelopmental disorder most probably caused by a complex interaction of genetic factors. Several genomewide scans identified multipoint LOD score peaks in region 7q32. In this region, UBE2H encodes an E2 enzyme of the ubiquitin-dependent proteolytic system. Mutations in another member of this system, the UBE3A gene, cause Angelman syndrome. The participation of E2...

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