UBE3A/E6-AP mutations cause Angelman syndrome.

Kishino, T

UBE3A/E6-AP mutations cause Angelman syndrome. [electronic resource] - Nature genetics Jan 1997 - 70-3 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

1061-4036

10.1038/ng0197-70 doi


Amino Acid Sequence
Angelman Syndrome--genetics
Base Sequence
Brain--embryology
Chromosome Mapping
Chromosomes, Human, Pair 15
DNA, Complementary
Female
Frameshift Mutation
Genomic Imprinting
Humans
Ligases--genetics
Male
Molecular Sequence Data
Mutation
Pedigree
Polymorphism, Single-Stranded Conformational
Ubiquitin-Protein Ligases
Ubiquitins--metabolism