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Genotyping of Fanconi Anemia Patients by Whole Exome Sequencing: Advantages and Challenges
Fanconi anemia (FA) is a rare genomic instability syndrome. Disease-causing are biallelic mutations in any one of at least 15 genes encoding members of the FA/BRCA pathway of DNA-interstrand crosslink repair. Patients are diagnosed based upon phenotypical manifestationsand the diagnosis of FA is con...
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| Hoofdauteurs: | , , , , , , |
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| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Public Library of Science
2012
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3527584/ https://ncbi.nlm.nih.gov/pubmed/23285130 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0052648 |
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