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Article

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

Molecular genetics and metabolism - 1 Dec 2008

Erdos Melinda, Németh Krisztina, Tóth Beáta, Constantin Tamás, Rákóczi Eva, Ponyi Andrea, Dajnoki Angéla, Grubits János, Pintér István, Garzuly Ferencz, Hahn Katalin, Bencsik Krisztina, Vécsei László, Fekete György, Maródi László

Abstract excerpt

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...

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PMID: 18849176
DOI: 10.1016/j.ymgme.2008.09.002

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