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...

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Detalles Bibliográficos
Autores principales: Solanki, Avani, Mohanty, Purvi, Shukla, Pallavi, Rao, Anita, Ghosh, Kanjaksha, Vundinti, Babu Rao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Research Article
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

Internet

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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