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The severe clinical phenotype for a heterozygous Fabry female patient correlates to the methylation of non-mutated allele associated with chromosome 10q26 deletion syndrome.
Hossain MA, Yanagisawa H, Miyajima T, Wu C, Takamura A, Akiyama K, Itagaki R, Eto K, Iwamoto T, Yokoi T, Kurosawa K, Numabe H, Eto Y. Hossain MA, et al. Mol Genet Metab. 2017 Mar;120(3):173-179. doi: 10.1016/j.ymgme.2017.01.002. Epub 2017 Jan 7. Mol Genet Metab. 2017. PMID: 28087245
1,626 results