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Q33594981-5CD2B56B-6F58-4890-A9B1-7D2899A022CD
Q33594981-5CD2B56B-6F58-4890-A9B1-7D2899A022CD
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33594981-5CD2B56B-6F58-4890-A9B1-7D2899A022CD
Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene.
P2860
Q33594981-5CD2B56B-6F58-4890-A9B1-7D2899A022CD
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33594981-5CD2B56B-6F58-4890-A9B1-7D2899A022CD
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wasDerivedFrom
c2c0beffc529c7b452972438273df208698f2da9
P2860
Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase.