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Information Journal Paper

Title

A New Missense Mutation in FANCA Gene Detected by Whole Exome Sequencing in a Case with Fanconi Anemia

Pages

  39-45

Abstract

Fanconi anemia (FA) is a rare genetic disease identified by a mutation in any of THE 22 FA associated genes that are linked with bone marrow failure and immunodeficiency. Of all FA associated genes, the most frequent mutation has been reported in the FANCA gene worldwide, which is responsible for about 60-65% of all cases. In this study, we presented a case with a new missense mutation in the FANCA gene among the Iranian population. Accordingly, bruising around the eyes as the first symptom was manifested in an around 10-years-old case, along with lung infection, and pancytopenia while normal serum immunoglobulin levels were also observed.

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    APA: Copy

    ATAEI, ZAHRA, & NAZARI, FARZAD. (2020). A New Missense Mutation in FANCA Gene Detected by Whole Exome Sequencing in a Case with Fanconi Anemia. IMMUNOLOGY AND GENETICS JOURNA, 3(2), 39-45. SID. https://sid.ir/paper/756472/en

    Vancouver: Copy

    ATAEI ZAHRA, NAZARI FARZAD. A New Missense Mutation in FANCA Gene Detected by Whole Exome Sequencing in a Case with Fanconi Anemia. IMMUNOLOGY AND GENETICS JOURNA[Internet]. 2020;3(2):39-45. Available from: https://sid.ir/paper/756472/en

    IEEE: Copy

    ZAHRA ATAEI, and FARZAD NAZARI, “A New Missense Mutation in FANCA Gene Detected by Whole Exome Sequencing in a Case with Fanconi Anemia,” IMMUNOLOGY AND GENETICS JOURNA, vol. 3, no. 2, pp. 39–45, 2020, [Online]. Available: https://sid.ir/paper/756472/en

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