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DeCS
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Descriptor English:
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Hexosaminidase A
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Descriptor Spanish:
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Hexosaminidasa A
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Descriptor Portuguese:
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Hexosaminidase A
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Synonyms English:
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Hex A
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Tree Number:
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D08.811.277.450.483.180.750
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Definition English:
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A mammalian beta-hexosaminidase isoform that is a heteromeric protein comprized of both hexosaminidase alpha and hexosaminidase beta subunits. Deficiency of hexosaminidase A due to mutations in the gene encoding the hexosaminidase alpha subunit is a case of TAY-SACHS DISEASE. Deficiency of hexosaminidase A and HEXOSAMINIDASE B due to mutations in the gene encoding the hexosaminidase beta subunit is a case of SANDHOFF DISEASE. |
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Indexing Annotation English:
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for deficiency consider: SANDOFF DISEASE or TAY-SACHS DISEASE
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See Related English:
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Sandhoff Disease
Tay-Sachs Disease
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History Note English:
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2008(1987); for HEXOSAMINIDASE A use BETA-N-ACETYLHEXOSAMINIDASE 1987-2007
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Allowable Qualifiers English:
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Record Number:
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52716
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Unique Identifier:
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D054818
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Occurrence in VHL:
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Similar:
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DeCS SciELO LILACS LIS
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