Voprosy meditsinskoi khimii (ISSN 0042-8809)

Mutations of a -galactosidase a gene in two unusual cases of fabry disease

   
Beyer E.M., Kopishinskaya S.V., Ploos Van Amstel J.K., Tsvetkova I.V.
PubMed Id: 10547886
Year: 1999 vol: 45  issue:4  pages: 346-349
Abstract: The mutation analysis of a -galactosidase Agene was carried out in two families with Fabry disease described by us earlier. In thefamily P. a new point mutation E341K (a G to A transition at position 10999 of the gene)was identified. The mutation causes a Glu341Lys substitution in a-galactosidase A molecule. Another point mutation was identified in a patient from familyN. who had unusual unusually high residual activity of a-galactosidase A. The mutation was identified as R112C (a C to T transition at position5233 of a -galactosidase A gene) and it caused the Arg112Cyssubstitution in the enzyme molecule. This mutation was earlier described in Japanesepatient with showed a complete loss of enzyme activity. However, in this case the mutationwas combined with another mutation Glu66Gln. The relasthionship between geneticheterogeneity and clinical manifestation of Fabry disease is discussed.
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Reference: Beyer E.M., Kopishinskaya S.V., Ploos Van Amstel J.K., Tsvetkova I.V., Mutations of a -galactosidase a gene in two unusual cases of fabry disease, Voprosy meditsinskoi khimii, 1999, vol: 45(4), 346-349.
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