A chronic GM2 gangliosidosis variant with a HEXA splicing defect: quantitation of HEXA mRNAs in normal and mutant fibroblasts.

Fernandes, M J

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

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

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