FANCA Gene Mutations with 8 Novel Molecular Changes in Indian Fanconi Anemia Patients
Vundinti, Babu Rao
- Publisher: Public Library of Science
(issn: 1932-6203, eissn: 1932-6203)
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...