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Transcriptome and whole genome sequencing profiles in Leber’s Hereditary Optic Neuropathy 14484T>C mutation carrying monozygotic twins reveal that prostanoid receptor is a possible modifier for LHON manifestation

2021-07-14

Abstract excerpt

<title>Abstract</title> <p>Background Leber’s inherited optic neuropathy (LHON) is well known for incomplete penetrance. A pair of monozygotic twins carrying 14484T > C LHON mutation: one displayed LHON characteristics (affected LHON) and the other twin was an unaffected LHON carrier, were studied to identify possible modifier(s) for LHON manifestation. Methods Primary fibroblasts from affected and unaffected m...

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Literature Corpus work
f6e8291a-d958-578a-9176-1d12327f7e1d
DOI
10.21203/rs.3.rs-604500/v1
Open publication

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Transcriptome and whole genome sequencing profiles in Leber’s Hereditary Optic Neuropathy 14484T&gt;C mutation carrying monozygotic twins reveal that prostanoid receptor is a possible modifier for LHON manifestationDOI 10.21203/rs.3.rs-604500/v1
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