| Literature DB >> 10090526 |
E M Beyer1, E A Karpova, O V Udalova, J K Ploos van Amstel, O P van Diggelen, I V Tsvetkova.
Abstract
A large Russian family with multiple cases of Fabry disease in several generations is presented. Fourteen family members were clinico-biochemically examined. Among 12 adult children (19-32 years old) of one couple, five sons manifested angiokeratotic skin lesions and other Fabry symptoms. Biochemical studies including an enzyme assay, the analysis of glycosphingolipid excretion and isoelectric focusing of a patient leukocyte extract allowed us to identify Fabry disease in four affected brothers and to establish the heterozygous status of their mother. The analysis of genomic DNA of four patients and their mother revealed a novel E341K missense mutation caused by a G to A transition (codon 341 GAA-AAA) in the alpha-galactosidase A gene.Entities:
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Year: 1999 PMID： 10090526 DOI： 10.1016/s0009-8981(98)00133-8
Source DB: PubMed Journal: Clin Chim Acta ISSN： 0009-8981 Impact factor: 3.786