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Future clinical and biochemical predictions of Fabry disease in females by methylation studies of the GLA gene

Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A (α-gal A). The clinical variability of the phenotypes of Fabry disease in females is still poorly understood. The degree of aberrant methylation of non-mutated alleles is thought to have significant e...

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Podrobná bibliografie
Vydáno v:Mol Genet Metab Rep
Hlavní autoři: Hossain, Mohammad Arif, Wu, Chen, Yanagisawa, Hiroko, Miyajima, Takashi, Akiyama, Keiko, Eto, Yoshikatsu
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2019
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6661284/
https://ncbi.nlm.nih.gov/pubmed/31372342
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2019.100497
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