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Rare compound heterozygous mutations in gene MSH6 cause constitutive mismatch repair deficiency syndrome
Few studies reported patients who harbored three kinds of primary tumors simultaneously. Here, we present a 9‐year‐old boy with colon carcinoma, brain medulloblastoma, and lymphoma. Genetic mutation detection was explored with next‐generation sequencing, and compound heterozygous mutations in gene M...
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| Publicado no: | Clin Case Rep |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6099036/ https://ncbi.nlm.nih.gov/pubmed/30147880 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.1564 |
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