TY  - GEN
AU  - Kishino,T
AU  - Lalande,M
AU  - Wagstaff,J
TI  - UBE3A/E6-AP mutations cause Angelman syndrome
SN  - 1061-4036
PY  - 1997///0128
KW  - Amino Acid Sequence
KW  - Angelman Syndrome
KW  - genetics
KW  - Base Sequence
KW  - Brain
KW  - embryology
KW  - Chromosome Mapping
KW  - Chromosomes, Human, Pair 15
KW  - DNA, Complementary
KW  - Female
KW  - Frameshift Mutation
KW  - Genomic Imprinting
KW  - Humans
KW  - Ligases
KW  - Male
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Pedigree
KW  - Polymorphism, Single-Stranded Conformational
KW  - Ubiquitin-Protein Ligases
KW  - Ubiquitins
KW  - metabolism
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1038/ng0197-70
ER  -