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Article

Prenatal Diagnosis of Severe Mitochondrial Diseases Caused by Nuclear Gene Defects: A Study in Japan 

2020-10-21

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> Prenatal diagnoses of mitochondrial diseases caused by defects in nuclear DNA (nDNA) or mitochondrial DNA (mtDNA) have been reported in several countries except for Japan. The present study aimed to clarify the status of prenatal genetic diagnosis of mitochondrial diseases caused by nDNA defects in Japan. A comprehensive genomic analysis was performed to diagnos...

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Literature Corpus work
f4b89655-15b9-59f3-9f57-a9530bc091d6
DOI
10.21203/rs.3.rs-93961/v1
Open publication

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