TY  - GEN
AU  - Akli,S
AU  - Chelly,J
AU  - Mezard,C
AU  - Gandy,S
AU  - Kahn,A
AU  - Poenaru,L
TI  - A "G" to "A" mutation at position -1 of a 5' splice site in a late infantile form of Tay-Sachs disease
SN  - 0021-9258
PY  - 1990///0604
KW  - Adenine
KW  - Base Sequence
KW  - Blotting, Northern
KW  - Cells, Cultured
KW  - DNA
KW  - genetics
KW  - Exons
KW  - Fibroblasts
KW  - enzymology
KW  - Guanine
KW  - Humans
KW  - Infant
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Oligonucleotide Probes
KW  - Polymerase Chain Reaction
KW  - RNA Splicing
KW  - Restriction Mapping
KW  - Tay-Sachs Disease
KW  - Transcription, Genetic
KW  - beta-N-Acetylhexosaminidases
N1  - Publication Type: Journal Article
ER  -