SnapShot: Fanconi Anemia and Associated Proteins
نویسندگان
چکیده
Fanconi anemia is a genetic disorder resulting from biallelic mutations in one of the 17 FANC genes. It is characterized by congenital abnormalities, bone marrow failure, and cancer predisposition. The underlying cause is genomic instability resulting from the deficiency in replication-dependent DNA interstrand crosslink repair pathway commonly referred to as the Fanconi anemia-BRCA pathway. This SnapShot presents the key factors involved.
منابع مشابه
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ورودعنوان ژورنال:
- Cell
دوره 160 شماره
صفحات -
تاریخ انتشار 2015