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Tay-Sachs, Canavan, Sandhoff, GM1 and related diseases

Missense point mutation

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Missense point mutation

Missense mutation (illustration)

This type of mutation is a change in one DNA base pair that results in the substitution of one amino acid for another in the protein made by a gene.

(reposted from http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/possiblemutations)

 

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