Article

Novel COL4A5 mutation in preimplantation genetic diagnosis of a patient with Alport syndrom

2022-03-23

Abstract excerpt

<title>Abstract</title> <p><bold>Purpose</bold> We report a novel gene mutation in a female patient with Alport syndrome who was planning to undergo assisted reproduction to achieve pregnancy. We performed pathogenicity analysis on the mutation and selected a suitable assisted reproductive technology solution for the patient.<bold>Methods</bold> A retrospective analysis of clinical and genetic data of a patient w...

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Literature Corpus work: 925a44eb-cd6c-54f8-a3fb-e73740f4517b
DOI: 10.21203/rs.3.rs-1425364/v1

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