FANCA Gene Mutations with 8 Novel Molecular Changes in Indian Fanconi Anemia Patients

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Solanki, Avani ; Mohanty, Purvi ; Shukla, Pallavi ; Rao, Anita ; Ghosh, Kanjaksha ; Vundinti, Babu Rao (2016)
  • Publisher: Public Library of Science
  • Journal: PLoS ONE, volume 11, issue 1 (issn: 1932-6203, eissn: 1932-6203)
  • Related identifiers: doi: 10.1371/journal.pone.0147016, pmc: PMC4723128
  • Subject: Nonsense Mutation | Molecular biology | Research Article | Biology and life sciences | Research and analysis methods | Deletion Mutation | Medicine | Gene Identification and Analysis | Anemia | Missense Mutation | Q | Mutation | Artificial gene amplification and extension | R | Hematology | Genetics | Substitution Mutation | Mutation Detection | Molecular biology techniques | Complementary DNA amplification | Science | Medicine and Health Sciences | Artificial DNA amplification | Frameshift Mutation

Fanconi anemia (FA), a rare heterogeneous genetic disorder, is known to be associated with 19 genes and a spectrum of clinical features. We studied FANCA molecular changes in 34 unrelated and 2 siblings of Indian patients with FA and have identified 26 different molecul... View more
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