@article { author = {Ataei, Zahra and Nazari, Farzad}, title = {A New Missense Mutation in FANCA Gene Detected by Whole Exome Sequencing in a Case with Fanconi Anemia (a case report)}, journal = {Immunology and Genetics Journal}, volume = {3}, number = {2}, pages = {39-45}, year = {2020}, publisher = {Research Center For Immunodeficiencies}, issn = {2645-4831}, eissn = {2645-4831}, doi = {10.22034/igj.2020.234109.1040}, abstract = {Fanconi Anemia (FA) is a rare genetic disease with a mutation in any of 22 FANC genes were known to date. Among all of FANC genes, most frequent mutation has been reported in FANCA gene worldwide responsible for about 60- 65% of all cases. In this case, we present a new missense mutation in FANCA gene in the Iranian population.}, keywords = {Fanconi anemia,FANCA,lung infection,pancytopenia}, url = {http://www.igjournal.ir/article_111512.html}, eprint = {http://www.igjournal.ir/article_111512_d541dceb48457d9fbf1b7f1ef493aeba.pdf} }