Female Fabry disease patients and X-chromosome inactivation

Author:

Juchniewicz Patrycja,Kloska Anna,Tylki-Szymańska Anna,Jakóbkiewicz-Banecka Joanna,Węgrzyn Grzegorz,Moskot Marta,Gabig-Cimińska Magdalena,Piotrowska EwaORCID

Funder

National Science Centre, Poland

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference37 articles.

1. Elevated globotriaosylsphingosine is a hallmark of Fabry disease;Aerts;Proc. Natl. Acad. Sci.,2008

2. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation;Allen;Am. J. Hum. Genet.,1992

3. X chromosome–inactivation patterns of 1,005 phenotypically unaffected females;Amos-Landgraf;Am. J. Hum. Genet.,2006

4. Variability of X chromosome inactivation: effect on levels of TIMP1 RNA and role of DNA methylation;Anderson;Hum. Genet.,2002

5. Fabry disease: 20 novel GLA mutations in 35 families;Blaydon;Hum. Mutat.,2001

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