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FANCAFanconi anemia, complementation group A
References in periodicals archive ?
RID-6 ailesinden, Fanconi anemisi tanili iki kardesten biri olan RID-6.2'de, FANCA geninde homozigot c.4261-2A>C mutasyonu saptandi.
Novel Founder Mutation in FANCA Gene (c.3446_3449dupCCCT) Among Romani Patients from the Balkan Region.
In SA individuals with Afrikaner ancestry, three mutations in FANCA have been shown to account for ~80% of FA cases.
The aims of the present study were firstly, to describe the physical phenotype of affected Afrikaner patients with confirmed founder FANCA mutations, and secondly, to compare this phenotype with the physical phenotype in black South African patients with FA caused by the homozygous FANCG deletion mutations described by Feben et al.
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).
[11] identified multiple founder mutations in the FANCA gene in this population.
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(3) La AF se asocia con alteracion en ocho genes, en donde el 70% de los pacientes tienen mutaciones en el gen FANCA, 10% en el gen FANCC, y el 10% en el gen FANCG; os otros genes rara vez se ven afectados.
Franca's story; survival in World War II Italy; the true story of Fanca Mercati Martin as told by Diane Kinman.