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Clinical application of nanopore sequencing for haplotype linkage analysis in preimplantation genetic testing for Duchenne muscular dystrophy

2023-10-06

Abstract excerpt

<h4>Background: </h4> Duchenne muscular dystrophy (DMD) is an X-linked recessive disease that affects approximately 1 in 5,000 newborn males. Most patients die of cardiac failure and/or respiratory insufficiency at approximately 20–40 years of age. Preimplantation genetic testing for monogenic disorders (PGT-M) has been successfully used to help couples with DMD mutations produce an unaffected offspring. However,...

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Literature Corpus work
5e64d294-4cf9-59d9-b242-fd9e7fdfbe2f
DOI
10.21203/rs.3.rs-3369657/v1
Open publication

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