Deletion of a branch-point consensus sequence in the LMX1B gene causes exon skipping in a family with nail patella syndrome
EUROPEAN JOURNAL OF HUMAN GENETICS(2000)
摘要
Nail patella syndrome (NPS) has been shown to result from loss of function mutations within the transcription factor LMX1B. In a large NPS family a 17bp intronic deletion encompassing a consensus branchpoint sequence was observed to segregate with the NPS phenotype. RNA analysis demonstrated that deletion of the branchpoint sequence resulted in skipping of the downstream exon. A mechanism to explain this phenomenon is presented.
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关键词
LMX1B
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