%0 Journal Article %T A New Missense Mutation in FANCA Gene Detected by Whole Exome Sequencing in a Case with Fanconi Anemia (a case report) %J Immunology and Genetics Journal %I Research Center For Immunodeficiencies %Z 2645-4831 %A Ataei, Zahra %A Nazari, Farzad %D 2020 %\ 08/01/2020 %V 3 %N 2 %P 39-45 %! A New Missense Mutation in FANCA Gene Detected by Whole Exome Sequencing in a Case with Fanconi Anemia (a case report) %K Fanconi anemia %K FANCA %K lung infection %K pancytopenia %R 10.22034/igj.2020.234109.1040 %X 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. %U http://www.igjournal.ir/article_111512_d541dceb48457d9fbf1b7f1ef493aeba.pdf