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。
Conclusions Novel compound heterozygous nonsense mutation of KCNQ1 can cause JLNS.
结论JLNS可由KCNQ1基因上复合的杂合突变所引起。
Conclusions Novel compound heterozygous nonsense mutation of KCNQ1 can cause JLNS.
结论JLNS可由KCNQ1基因上复合的杂合突变所引起。
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