Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Aplastic anemia is a pancytopenia caused by bone marrow dysfunction. In some rare cases it is constitutional and maybe caused by mutations of the PRF1 gene.
| 1. |
Dufour C et al. (2004) Homozygosis for (12) CA repeats in the first intron of the human IFN-gamma gene is significantly associated with the risk of aplastic anaemia in Caucasian population. 
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| 2. |
Solomou EE et al. (2007) Perforin gene mutations in patients with acquired aplastic anemia.
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| 3. |
Vulliamy T et al. (2002) Association between aplastic anaemia and mutations in telomerase RNA.
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| 4. |
Shimada H et al. (2004) First case of aplastic anemia in a Japanese child with a homozygous missense mutation in the NBS1 gene (I171V) associated with genomic instability.
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| 5. |
Calado RT et al. (2007) Mutations in the SBDS gene in acquired aplastic anemia.
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