Article

X-chromosome inactivation patterns in females with Fabry disease examined by both ultra-deep RNA sequencing and methylation-dependent assay

2020-11-05

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold>: Fabry disease is an X-linked inherited lysosomal storage disorder related to <italic>GLA</italic> mutations, gene encoding α-galactosidase A. In general, males has severe phenotype, while females has a wide spectrum of sign and symptoms, from asymptomatic to a more classical profile including cardiac, renal, and cerebrovascular manifestations. This variability h...

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Literature Corpus work: b28eda39-dcf2-5902-8edc-827385717213
DOI: 10.21203/rs.3.rs-100840/v1

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