Whole Exome Sequencing of a Patient with a Milder Phenotype of Xeroderma Pigmentosum Group C
A 17-year-old female Korean patient (XP115KO) was previously diagnosed with Xeroderma pigmentosum group C (XPC) by Direct Sanger sequencing, which revealed a homozygous nonsense mutation in the <i>XPC</i> gene (rs121965088: c.1735C > T, p.Arg579Ter). While rs121965088 is associated with a poor progn...
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| Hauptverfasser: | , , , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
MDPI AG
2023-04-01
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| Schriftenreihe: | Medicina |
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| Online-Zugang: | https://www.mdpi.com/1648-9144/59/4/699 |
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