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Year | Number of Results |
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1991 | 1 |
1998 | 1 |
2009 | 1 |
2015 | 1 |
2024 | 0 |
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Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments.
Genomics. 1991 Sep;11(1):124-34. doi: 10.1016/0888-7543(91)90109-r.
Genomics. 1991.
PMID: 1837283
Late-onset Tay-Sachs disease presenting as a childhood stutter.
Shapiro BE, Natowicz MR.
Shapiro BE, et al.
J Neurol Neurosurg Psychiatry. 2009 Jan;80(1):94-5. doi: 10.1136/jnnp.2008.147645.
J Neurol Neurosurg Psychiatry. 2009.
PMID: 19091716
No abstract available.
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Paranoid delusion as lead symptom in two siblings with late-onset Tay-Sachs disease and a novel mutation in the HEXA gene.
Stendel C, Gallenmüller C, Peters K, Bürger F, Gramer G, Biskup S, Klopstock T.
Stendel C, et al.
J Neurol. 2015;262(4):1072-3. doi: 10.1007/s00415-015-7729-0. Epub 2015 Apr 11.
J Neurol. 2015.
PMID: 25860343
No abstract available.
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A Pro504 --> Ser substitution in the beta-subunit of beta-hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff disease.
Hou Y, McInnes B, Hinek A, Karpati G, Mahuran D.
Hou Y, et al.
J Biol Chem. 1998 Aug 14;273(33):21386-92. doi: 10.1074/jbc.273.33.21386.
J Biol Chem. 1998.
PMID: 9694901
Free article.
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