Whole Exome Sequencing Identifies a Novel Homozygous Missense Mutation in the CSB Protein-Encoding <i>ERCC6</i> Gene in a Taiwanese Boy with Cockayne Syndrome

Whole Exome Sequencing Identifies a Novel Homozygous Missense Mutation in the CSB Protein-Encoding <i>ERCC6</i> Gene in a Taiwanese Boy with Cockayne Syndrome

Background: Cockayne syndrome (CS) is a rare form of dwarfism that is characterized by progressive premature aging. CS is typically caused by mutations in the excision repair cross-complementing protein group 6 (<i>ERCC6</i>) gene that encodes the CS group B (CSB) protein. Using whole ex...

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Autores principales: Ching-Ming Lin, Jay-How Yang, Hwei-Jen Lee, Yu-Pang Lin, Li-Ping Tsai, Chih-Sin Hsu, G. W. Gant Luxton, Chih-Fen Hu
Formato: article
Lenguaje:EN
Publicado: MDPI AG 2021
Materias:
Cockayne syndrome B
progeroid
<i>ERCC6</i>
whole exome sequencing
transcription-coupled nucleotide excision repair (TC-NER)
Science
Q
Acceso en línea:https://doaj.org/article/2f06896b361347308d379e7f110296a8
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https://doaj.org/article/2f06896b361347308d379e7f110296a8

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