The molecular basis of HEXA mRNA deficiency caused by the most common Tay-Sachs disease mutation.

Article

The molecular basis of HEXA mRNA deficiency caused by the most common Tay-Sachs disease mutation.

American journal of human genetics - 1 Mar 1995

Boles D J, Proia R L

Abstract excerpt

Tay-Sachs disease (TSD) is a catastrophic neurodegenerative disorder caused by mutations in the HEXA gene. The most common TSD allele worldwide contains a 4-bp insertion in exon 11 that produces a downstream premature termination codon. Despite normal transcription of this allele, HEXA mRNA is se...

Topics

Amino Acid Sequence
Animals
Base Sequence
Cells, Cultured
Exons
Hexosaminidase A
Humans
L Cells
Mice
Molecular Sequence Data
Mutation
Polymerase Chain Reaction
RNA, Messenger
Tay-Sachs Disease
Transfection
beta-N-Acetylhexosaminidases

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