FANCA


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AcronymDefinition
FANCAFanconi anemia, complementation group A
References in periodicals archive ?
Altogether, 8 (self-reported ancestry) Afrikaner patients were recruited, of whom 7 were homozygous or compound heterozygous for the FANCA founder mutations.
To address the FA issue he explained our team (including colleagues from Tokai University School of Medicine) established iPSCs from two FA patients who have the FANCA gene mutation that is typical in FA.
As can be expected, these genes can be assigned to different functional groups such as cell death regulators (CASP2, ING2, MDM4, NAIP), transcriptional and translational regulation (DEPDC1, GABPB1, LHFPL2, NFIB, P0LR3C, RPL34, RPS3A, RPS21, RPS25, TFDP2, TRIM24, ZBTB1, ZBTB38, ZFP112), oxidative stress response (SPATS2L, GSTT2B, NQO1), DNA maintenance and processing (BAHCC1, FANCA, H1ST1H3G, IK, KDM4C, MCM7, PRB3, RNASEH2B, SNRPE, TFDP2), blood coagulation (FGA, MATR3, PROCR, P1K3CG), signal transduction (ANXA2, ARHGAP19, C7orf47, CCDC50, DTX3, FHL2, P1K3CG, RALB, T1CAM2), cytoskeletal components (BCL7A, DYNC1LI2, SEPT10, SEPT11), transport functions (ABCC1, FXYD2, S100A6, SCNN1G, XP05), or others (ADAM22, ALDH3A2, FAM161A, HDDC2, HLA-F).