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

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 sever...

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Hlavní autoři: Boles, D J, Proia, R L
Médium: Artigo
Jazyk:Inglês
Vydáno: 1995
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801160/
https://ncbi.nlm.nih.gov/pubmed/7887427
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