Pitfalls of X‐chromosome inactivation testing in females with Fabry disease-Reference-Cited by-同舟云学术

Pitfalls of X‐chromosome inactivation testing in females with Fabry disease

Published:2022-03-26 Issue:7 Volume:188 Page:1979-1989
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Řeboun Martin¹,Sikora Jakub²³^ORCID,Magner Martin¹⁴,Wiederlechnerová Helena¹,Černá Alena¹,Poupětová Helena¹,Štorkánova Gabriela¹,Mušálková Dita²,Dostálová Gabriela⁵,Goláň Lubor⁵,Linhart Aleš⁵,Dvořáková Lenka¹^ORCID

Affiliation:

1. Diagnostic laboratories of IMD, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine Charles University and General University Hospital Prague Czech Republic

2. Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine Charles University and General University Hospital Prague Czech Republic

3. Institute of Pathology, First Faculty of Medicine, Charles University and General University Hospital Prague Czech Republic

4. Department of Pediatrics Thomayer University Hospital and First Faculty of Medicine, Charles University Prague Czech Republic

5. Second Department of Internal Cardiovascular Medicine, First Faculty of Medicine Charles University and General University Hospital Prague Czech Republic

Funder

Ministerstvo Zdravotnictví Ceské Republiky

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62728

Reference43 articles.

1. X Chromosome–Inactivation Patterns of 1,005 Phenotypically Unaffected Females

2. Fabry disease: 20 novel GLA mutations in 35 families

3. Nonrandom X-inactivation patterns in normal females: lyonization ratios vary with age