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What type of mutation is involved in Tay Sachs disease 2024?

Carter Martin | 2023-04-20 19:12:06 | page views：1985
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Harper Hall

Studied at the University of Zurich, Lives in Zurich, Switzerland.
Mutations in the HEXA gene cause Tay-Sachs disease. The HEXA gene provides instructions for making part of an enzyme called beta-hexosaminidase A, which plays a critical role in the brain and spinal cord. ... Within lysosomes, beta-hexosaminidase A helps break down a fatty substance called GM2 ganglioside.
2023-04-22 19:12:06
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Isabella Hernandez

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Mutations in the HEXA gene cause Tay-Sachs disease. The HEXA gene provides instructions for making part of an enzyme called beta-hexosaminidase A, which plays a critical role in the brain and spinal cord. ... Within lysosomes, beta-hexosaminidase A helps break down a fatty substance called GM2 ganglioside.
Tay-Sachs disease - Genetics Home Reference
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