Novel sequence variants of the alpha-galactosidase A gene in patients with Fabry disease.

@article{Erds2008NovelSV,
  title={Novel sequence variants of the alpha-galactosidase A gene in patients with Fabry disease.},
  author={Melinda Erdős and Kriszt{\'i}na N{\'e}meth and Be{\'a}ta T{\'o}th and Tam{\'a}s Constantin and Eva R{\'a}k{\'o}czi and Andrea Ponyi and Ang{\'e}la Dajnoki and J{\'a}nos Grubits and Istv{\'a}n Pint{\'e}r and Ferencz Garzuly and Katalin Hahn and Krisztina Bencsik and L{\'a}szl{\'o} V{\'e}csei and Gy{\"o}rgy Fekete and L{\'a}szl{\'o} Mar{\'o}di},
  journal={Molecular genetics and metabolism},
  year={2008},
  volume={95 4},
  pages={224-8}
}
We carried out molecular studies of 15 unrelated Hungarian families diagnosed with Fabry disease (FD). Genetic analysis of the alpha-galactosidase A gene was performed in 22 hemizygous males and 34 females. One of the female patients with severe disease phenotype showed homozygosity for the recurrent c.644A>G mutation due to parental consanguinity. The c.644A>G mutation that has previously been found mostly in patients with the cardiac variant of FD, was associated with renal but not cardiac… CONTINUE READING

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