...型的例子, HLA基因单体型信息是骨髓移植工作中非常重要的一项信息,不过这只适用于非常复杂的杂合突变(heterozygous mutation)——在一个基因位点上发生了两个突变。
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heterozygous mutation of the FSHR 或杂合子突变
BRCA heterozygous mutation BRCA杂合性突变
heterozygous point mutation 杂合点突变
heterozygous nonallelic mutation 杂合非等位基因突变
Methods: nine heterozygous mutation carriers and nine healthy controls were investigated.
方法:调查9名杂合子突变携带者和9名健康对照者。
Conclusion a new compound heterozygous mutation of ECM1 gene was identified in this LP family.
结论本类脂质蛋白沉积症家系存在新的ECM 1基因突变位点。
Results a homozygous mutation at exon 13 of the proband was found by parallel TGGE. Homozygous and heterozygous mutations were also found in the family by parallel TGGE.
结果平行tgge发现,两患儿第13外显子存在一纯合突变,其父母此外显子存在杂合突变。
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