A new novel mutation in FBN1 causes autosomal dominant Marfan syndrome in a Chinese family

@inproceedings{Dong2012ANN,
  title={A new novel mutation in FBN1 causes autosomal dominant Marfan syndrome in a Chinese family},
  author={Jiamei Dong and Juan Bu and Wei Du and Yuan Li and Yanlei Jia and Jianchang Li and Xiaoli Meng and Minghui Yuan and Xiaojuan Peng and Aimin Zhou and Lejin Wang},
  booktitle={Molecular vision},
  year={2012}
}
PURPOSE Screening of mutations in the fibrillin-1 (FBN1) gene in a Chinese family with autosomal dominant Marfan syndrome (MFS). METHODS It has been reported that FBN1 mutations account for approximately 90% of Autosomal Dominant MFS. FBN1 mutations were analyzed in a Chinese family of 36 members including 13 MFS patients. The genomic DNAs from blood leukocytes of the patients and their relatives were isolated and the entire coding region of FBN1 was amplified by PCR. The sequence of FBN1 was… CONTINUE READING

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