TY - JOUR ID - 111512 TI - A New Missense Mutation in FANCA Gene Detected by Whole Exome Sequencing in a Case with Fanconi Anemia (a case report) JO - Immunology and Genetics Journal JA - IGJ LA - en SN - AU - Ataei, Zahra AU - Nazari, Farzad AD - Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran AD - Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran Y1 - 2020 PY - 2020 VL - 3 IS - 2 SP - 39 EP - 45 KW - Fanconi anemia KW - FANCA KW - lung infection KW - pancytopenia DO - 10.22034/igj.2020.234109.1040 N2 - 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. UR - http://www.igjournal.ir/article_111512.html L1 - http://www.igjournal.ir/article_111512_d541dceb48457d9fbf1b7f1ef493aeba.pdf ER -