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FANCA Gene Mutations with 8 Novel Molecular Changes in Indian Fanconi Anemia Patients
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 molecular changes of FANCA gene, of w...
Autores principales: | Solanki, Avani, Mohanty, Purvi, Shukla, Pallavi, Rao, Anita, Ghosh, Kanjaksha, Vundinti, Babu Rao |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4723128/ https://www.ncbi.nlm.nih.gov/pubmed/26799702 http://dx.doi.org/10.1371/journal.pone.0147016 |
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