以前发现的拟南芥中几个位点的隐性突变导致了木质部萎陷的表型，但没有观察到水分运输的缺失。

Recessive mutations in several loci of Arabidopsis were previously shown to lead to a collapsed xylem phenotype but water-transport deficiency was not observed.

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点突变、小和大规模的缺失、染色体异常。

Point mutations, small and large-scale deletions, chromosomal abnormalities.

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结论3例FA-A型患者均无功能性FANCA蛋白表达；基因缺失、移码突变和剪切位点突变是FANCA基因的主要失活方式。

Conclusions No functional FANCA protein was found in these 3 cases of FA-A, and intragenic deletion, frame shift and splice site mutation were the major pathogenic mutations found in FANCA gene.

youdao

结论3例FA-A型患者均无功能性FANCA蛋白表达；基因缺失、移码突变和剪切位点突变是FANCA基因的主要失活方式。

Conclusions No functional FANCA protein was found in these 3 cases of FA-A, and intragenic deletion, frame shift and splice site mutation were the major pathogenic mutations found in FANCA gene.

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