Claudia L. Church Smith , Ashwin Roy , Sarah Steeds , Natalie Tuzcuoglu , Christopher Wingrove , Katherine Aitchison , Claire Radford , Laura A. Boyes , Fiona Stewart , Tarekegn Geberhiwot , Richard P. Steeds
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引用次数: 0
Abstract
Fabry disease (FD) is a rare, pan ethnic X-linked disorder. We explored ethnic representation in our service and a national patient organisation. An audit of the University Hospitals Birmingham FD cohort revealed that 9 % of index cases are minority ethnic, compared to 18.3 % of the population of England and Wales and 51.4 % of the Birmingham population. A similar split was observed in a national patient cohort, highlighting a need to identify the reasons for under-representation.
期刊介绍：
Molecular Genetics and Metabolism Reports is an open access journal that publishes molecular and metabolic reports describing investigations that use the tools of biochemistry and molecular biology for studies of normal and diseased states. In addition to original research articles, sequence reports, brief communication reports and letters to the editor are considered.
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