| 1. | Both frameshift and missense mutations can be suppressed by intragenic suppressors .
移码突变和异义突变都能被基因内抑制基因所抑制。
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| 2. | Mutations in wnk4 are missense mutations in the coding sequence near the coiled - coil domains
Wnk4基因突变是位于coiled - coil区域附近一段高度保守区域的错义突变。
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| 3. | One missense mutation was found in 48 hypertriglyceridemic patients and identified to be pro207 - leu by sequencing , pedigree analysis of this proband has been carried out and showed that the pro band ' s father is also a carrier of this mutation
征得患者家属的同意和支持，对其家族三代十人进行了完整的家系分析。家系分析显示，先证者的突变来自其父亲的遗传。在外显子6 、 7 、 8中未检出基因突变。
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