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Two heterozygous mutations in the ERCC6 gene associated with Cockayne syndrome in a Chinese patient
OBJECTIVE: To confirm diagnosis and explore the genetic aetiology in a Chinese patient suspected to have Cockayne syndrome (CS). METHODS: The patient was clinically examined, and the patient and her biological parents underwent genetic analysis using whole exome sequencing (WES) and Sanger sequencin...
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| Publicado no: | J Int Med Res |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
SAGE Publications
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7607196/ https://ncbi.nlm.nih.gov/pubmed/31558084 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/0300060519877997 |
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