No abstract available
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Alternative Splicing / genetics*
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Blotting, Northern
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DNA / blood
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DNA / isolation & purification
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Fatal Outcome
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Female
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Humans
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Infant
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Mutation / genetics*
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Pedigree
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RNA / blood
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RNA / isolation & purification
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Sandhoff Disease / enzymology
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Sandhoff Disease / genetics*
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beta-N-Acetylhexosaminidases / genetics
Substances
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RNA
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DNA
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beta-N-Acetylhexosaminidases