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- W1920515895 abstract "Mucopolysaccharidosis type IIIA, also known as Sanfilippo A disease, results from mutations in the sulfamidase gene. To date, a total of 62 mutations have been described underlying this lysosomal disorder. Expression studies on missense mutations have shown that each alteration was disease-causing and helped to clarify the genotype-phenotype correlation. In this report we describe a large pedigree where the mutations have been identified in two second cousins: one with severe disease (E369K/R433Q) and the other with a mild form of the illness (E369K/P128L). This study places R433Q as a severe mutation underlying Sanfilippo A disease." @default.
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- W1920515895 date "2003-04-01" @default.
- W1920515895 modified "2023-10-15" @default.
- W1920515895 title "Analysis of Sanfilippo A gene mutations in a large pedigree" @default.
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- W1920515895 doi "https://doi.org/10.1034/j.1399-0004.2003.00053.x" @default.
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