Mutation Analysis of UBE3A in Angelman Syndrome Patients
- 1 June 1998
- journal article
- Published by Elsevier BV in American Journal of Human Genetics
- Vol. 62 (6), 1353-1360
- https://doi.org/10.1086/301877
Abstract
No abstract availableKeywords
This publication has 15 references indexed in Scilit:
- Genomic Organization of theUBE3A/E6-AP Gene and Related PseudogenesGenomics, 1998
- Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neuronsNature Genetics, 1997
- The Angelman syndrome candidate gene, UBE3AIE6-AP, is imprinted in brainNature Genetics, 1997
- Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brainNature Genetics, 1997
- The HumanE6-APGene (UBE3A) Encodes Three Potential Protein Isoforms Generated by Differential SplicingGenomics, 1997
- De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndromeNature Genetics, 1997
- UBE3A/E6-AP mutations cause Angelman syndromeNature Genetics, 1997
- Angelman syndromeCurrent Problems in Pediatrics, 1995
- A family of proteins structurally and functionally related to the E6-AP ubiquitin-protein ligase.Proceedings of the National Academy of Sciences of the United States of America, 1995
- Imprinting analysis of three genes in the Prader — Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E)Human Molecular Genetics, 1994