Fernandes, M J <br/><br/>
A chronic GM2 gangliosidosis variant with a HEXA splicing defect: quantitation of HEXA mRNAs in normal and mutant fibroblasts.  [electronic resource] 

 -  European journal of human genetics : EJHG   
 - 129-36 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1018-4813 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Alleles<br/>Cell Line<br/>DNA Primers<br/>Exons<br/>Fibroblasts--cytology<br/>G(M2) Ganglioside--metabolism<br/>Hexosaminidase A<br/>Humans<br/>Mutation<br/>Plasmids<br/>Polymerase Chain Reaction<br/>Polymorphism, Single-Stranded Conformational<br/>RNA--isolation & purification<br/>RNA Splicing--genetics<br/>RNA, Complementary<br/>RNA, Messenger--analysis<br/>Sequence Analysis, DNA<br/>Tay-Sachs Disease--genetics<br/>beta-N-Acetylhexosaminidases--genetics