A chronic GM2 gangliosidosis variant with a HEXA splicing defect: quantitation of HEXA mRNAs in normal and mutant fibroblasts. [electronic resource]
Producer: 19970930Description: 129-36 p. digitalISSN:- 1018-4813
- Alleles
- Cell Line
- DNA Primers
- Exons
- Fibroblasts -- cytology
- G(M2) Ganglioside -- metabolism
- Hexosaminidase A
- Humans
- Mutation
- Plasmids
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational
- RNA -- isolation & purification
- RNA Splicing -- genetics
- RNA, Complementary
- RNA, Messenger -- analysis
- Sequence Analysis, DNA
- Tay-Sachs Disease -- genetics
- beta-N-Acetylhexosaminidases -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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