Harmon, D L <br/><br/>
Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene.  [electronic resource] 

 -  Journal of medical genetics  Feb 1993 
 - 123-8 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0022-2593 
<br/><br/><label>Standard No.: </label>10.1136/jmg.30.2.123  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Sequence<br/>Base Sequence<br/>Child, Preschool<br/>DNA--genetics<br/>DNA Mutational Analysis<br/>Exons<br/>Female<br/>Heterozygote<br/>Hexosaminidase A<br/>Humans<br/>Molecular Sequence Data<br/>Phenotype<br/>Point Mutation<br/>Protein Conformation<br/>Sequence Alignment<br/>Tay-Sachs Disease--enzymology<br/>beta-N-Acetylhexosaminidases--chemistry