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Human RECQ Helicase Pathogenic Variants, Population Variation and “Missing” Diseases
Heritable loss of function mutations in the human RECQ helicase genes BLM, WRN, and RECQL4 cause Bloom, Werner, and Rothmund-Thomson syndromes, cancer predispositions with additional developmental or progeroid features. In order to better understand RECQ pathogenic and population variation, we syste...
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| Publicado no: | Hum Mutat |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5518694/ https://ncbi.nlm.nih.gov/pubmed/27859906 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23148 |
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