A novel 4-bp deletion creates a premature stop codon and dramatically decreases HEXB mRNA levels in a severe case of Sandhoff disease.
作者： M. Gomez-Lira , M. Mottes , C. Perusi , P.F. Pignatti , N. Rizzuto
关键词:
摘要: Abstract We present the molecular genetic analysis of an infantile-onset Sandhoff disease patient. Genomic DNA amplification, heteroduplex analysis, cloning and sequencing revealed a 4-bp deletion in exon 4 (497 ΔAGTT). The result is frameshift mutation that leads to stop codon 5. This associated with dramatic decrease HEXB mRNA levels.
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