Akli, S <br/><br/>
A "G" to "A" mutation at position -1 of a 5' splice site in a late infantile form of Tay-Sachs disease.  [electronic resource] 

 -  The Journal of biological chemistry  May 1990 
 - 7324-30 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>0021-9258 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adenine<br/>Base Sequence<br/>Blotting, Northern<br/>Cells, Cultured<br/>DNA--genetics<br/>Exons<br/>Fibroblasts--enzymology<br/>Guanine<br/>Humans<br/>Infant<br/>Molecular Sequence Data<br/>Mutation<br/>Oligonucleotide Probes<br/>Polymerase Chain Reaction<br/>RNA Splicing<br/>Restriction Mapping<br/>Tay-Sachs Disease--genetics<br/>Transcription, Genetic<br/>beta-N-Acetylhexosaminidases--genetics