Deletion of the 5'-region in one or two alleles of... [Hum Genet. 1992] - PubMed

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A second, large deletion in the HEXB gene in a patient with infantile Sandhoff disease. [Hum Mol Genet. 1995]
A second, large deletion in the HEXB gene in a patient with infantile Sandhoff disease.
Zhang ZX, Wakamatsu N, Akerman BR, Mules EH, Thomas GH, Gravel RA. Hum Mol Genet. 1995 Apr; 4(4):777-80.
Distribution and characterization of a Sandhoff disease-associated 50-kb deletion in the gene encoding the human beta-hexosaminidase beta-chain. [Hum Genet. 1990]
Distribution and characterization of a Sandhoff disease-associated 50-kb deletion in the gene encoding the human beta-hexosaminidase beta-chain.
Bikker H, van den Berg FM, Wolterman RA, Kleijer WJ, de Vijlder JJ, Bolhuis PA. Hum Genet. 1990 Aug; 85(3):327-9.
Structure and distribution of an Alu-type deletion mutation in Sandhoff disease. [J Clin Invest. 1990]
Structure and distribution of an Alu-type deletion mutation in Sandhoff disease.
Neote K, McInnes B, Mahuran DJ, Gravel RA. J Clin Invest. 1990 Nov; 86(5):1524-31.
Review [Lysosome disease--Sandhoff disease]. [Nihon Rinsho. 1993]
Review [Lysosome disease--Sandhoff disease].
Eguchi I, Wakamatsu N, Nakano R, Tsuji S. Nihon Rinsho. 1993 Sep; 51(9):2276-80.
Review The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis. [Biochim Biophys Acta. 1991]
Review The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis.
Mahuran DJ. Biochim Biophys Acta. 1991 Feb 22; 1096(2):87-94.

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Deletion of the 5'-region in one or two alleles of HEXB in 15 out of 30 patients...
Deletion of the 5'-region in one or two alleles of HEXB in 15 out of 30 patients with Sandhoff disease.
Hum Genet. 1992 Nov ;90(3):328-9.

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