A kindred with Cockayne syndrome caused by multiple splicing variants of the CSA gene

  title={A kindred with Cockayne syndrome caused by multiple splicing variants of the CSA gene},
  author={Ai Komatsu and Satoru Suzuki and Takeshi Inagaki and Koh Yamashita and Kiyoshi Hashizume},
  journal={American Journal of Medical Genetics Part A},
Cockayne syndrome (CS) is an autosomal recessive disorder, which is associated with abnormal UV hypersensitivity, growth retardation, and psycho‐neural abnormalities. Recently, CSA protein was found to be associated with CS. We obtained mRNAs from immortal lymphoblasts derived from members of the kindred, and sequenced the CSA gene of all family members after reverse transcription (RT) of the coding region. The intact length of the CSA transcript was found in all family members except the… 
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