Genotype ⁻Phenotype Correlation in a New Fabry-Disease-Causing Mutation.

Conclusion: A novel GLA mutation, c.270C>G (p.Cys90Trp), was found in a Lithuanian family with a classical form of Fabry disease in heterozygous women with predominant cardiac involvement. However, the exact manifestation of this mutation is still unclear as it is newly reported and further research must be done.
PMID: 31067829 [PubMed - in process]

Source: Medicina (Kaunas) - May 6, 2019 Category: Universities & Medical Training Authors: Čerkauskaitė A, Čerkauskienė R, Miglinas M, Laurinavičius A, Ding C, Rolfs A, Vencevičienė L, Barysienė J, Kazėnaitė E, Sadauskienė E Tags: Medicina (Kaunas) Source Type: research