Comparative in vitro Expression Study of Four Fabry Disease Causing Mutations at Glutamine 279 of th...
Comparative in vitro Expression Study of Four Fabry Disease Causing Mutations at Glutamine 279 of the α-Galactosidase A Protein
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Basel, Switzerland: S. Karger AG
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English
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Basel, Switzerland: S. Karger AG
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Fabry disease is an X-linked lysosomal storage disorder caused by the deficiency of α-galactosidase A that results in the accumulation of neutral sphingolipids. We report a novel point mutation in exon 6, Q279K, carried by an asymptomatic child with a family history of classic Fabry disease. Moreover, we comparatively study the in vitro expression...
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Comparative in vitro Expression Study of Four Fabry Disease Causing Mutations at Glutamine 279 of the α-Galactosidase A Protein
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TN_cdi_crossref_primary_10_1159_000079244
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_crossref_primary_10_1159_000079244
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ISSN
0001-5652
E-ISSN
1423-0062
DOI
10.1159/000079244
