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Segregation of Tay-Sachs and Sandhoff alleles in a non-Jewish family.
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Sandhoff disease heterozygote detection: a component of population screening for Tay-Sachs disease carriers. I. Statistical methods.
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[Beta-N-acetyl-hexosaminidase--the enzyme of Tay-Sachs and Sandhoff diseases].
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引用本文的文献
1
Sandhoff disease heterozygote detection: a component of population screening for Tay-Sachs disease carriers. I. Statistical methods.
Am J Hum Genet. 1985 Sep;37(5):912-21.
本文引用的文献
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Variation of beta-N-acetylhexosaminidase-pattern in Tay-Sachs disease.
FEBS Lett. 1969 Aug;4(4):351-354. doi: 10.1016/0014-5793(69)80274-7.
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Tay-Sachs disease: generalized absence of a beta-D-N-acetylhexosaminidase component.
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Enzyme alterations and lipid storage in three variants of Tay-Sachs disease.
J Neurochem. 1971 Dec;18(12):2469-89. doi: 10.1111/j.1471-4159.1971.tb00204.x.
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Sandhoff disease: diagnosis of heterozygous carriers by serum hexosaminidase assay.
Clin Chim Acta. 1973 Oct 12;48(2):153-8. doi: 10.1016/0009-8981(73)90360-4.
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Tay-Sachs disease--the use of tears for the detection of heterozygotes.
N Engl J Med. 1973 Nov 15;289(20):1072-4. doi: 10.1056/NEJM197311152892006.
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Subunit structure of human hexosaminidase verified: interconvertibility of hexosaminidase isozymes.
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Chemical characterization and subunit structure of human N-acetylhexosaminidases A and B.
Biochemistry. 1976 Aug 10;15(16):3484-93. doi: 10.1021/bi00661a014.
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Studies on complementation of beta hexosaminidase deficiency in human GM2 gangliosidosis.
Am J Hum Genet. 1976 Mar;28(2):143-54.
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Suggestions for a nomenclature for the GM2 gangliosidoses making certain (possibly unwarrantable) assumptions.
Am J Hum Genet. 1978 Nov;30(6):672-5.
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Evidence for a hybrid hexosaminidase isoenzyme in heterozygotes for Sandhoff disease.
Am J Hum Genet. 1979 May;31(3):281-9.
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