Article
[FANCA gene mutation analysis in Fanconi anemia patients].
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi - 1 Oct 2005
Chen Fei, Peng Guang-Jie, Zhang Kejian, Hu Qun, Zhang Liu-Qing, Liu Ai-Guo
Abstract excerpt
OBJECTIVE: To screen the FANCA gene mutation and explore the FANCA protein function in Fanconi anemia (FA) patients. METHODS: FANCA protein expression and its interaction with FANCF were analyzed using Western blot and immunoprecipitation in 3 cases of FA-A. Genomic DNA was used for MLPA analysis followed by sequencing. RESULTS: FANCA protein was undetectable and FANCA and FANCF protein interaction was impaired...
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