Identification of point mutations and large intragenic deletions in Fanconi anemia using next‐genera...
Identification of point mutations and large intragenic deletions in Fanconi anemia using next‐generation sequencing technology
About this item
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Publisher
United States: John Wiley & Sons, Inc
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Language
English
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Publisher
United States: John Wiley & Sons, Inc
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Scope and Contents
Contents
Fanconi anemia (FA) is a rare bone marrow failure disorder characterized by clinical and genetic heterogeneity with at least 17 genes involved, which make molecular diagnosis complex and time‐consuming. Since next‐generation sequencing technologies could greatly improve the genetic testing in FA, we sequenced DNA samples with known and unknown muta...
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Full title
Identification of point mutations and large intragenic deletions in Fanconi anemia using next‐generation sequencing technology
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4694132
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4694132
Other Identifiers
ISSN
2324-9269
E-ISSN
2324-9269
DOI
10.1002/mgg3.160
