The spectrum of mutations in UBE3A causing Angelman syndrome.

Fang P, Lev-Lehman E, Tsai TF, Matsuura T, Benton CS, Sutcliffe JS, Christian SL, Kubota T, Halley DJ, Meijers-Heijboer H, Langlois S, Graham JM, Beuten J, Willems PJ, Ledbetter DH, Beaudet AL
Hum Mol Genet. 1999 8 (1): 129-35

PMID: 9887341 · DOI:10.1093/hmg/8.1.129

MeSH Terms (18)

Angelman Syndrome Animals Base Sequence DNA Mutational Analysis DNA Primers Exons Female Genetic Counseling Genetic Variation Genomic Imprinting Humans Ligases Male Mice Mutation Pedigree Phenotype Ubiquitin-Protein Ligases

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