GM2 gangliosidoses in Spain: Analysis of the HEXA and HEXB genes in 34 Tay–Sachs and 14 Sandhoff patients
Author:
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference42 articles.
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4. Molecular basis of an adult form of Sandhoff disease: substitution of glutamine for arginine at position 505 of the beta-chain of beta-hexosaminidase results in a labile enzyme;Bolhuis;Biochim. Biophys. Acta,1993
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