结论SLC26A4基因的N392Y、S448X复合杂合突变是导致该先证者耳聋发生的原因。
Conclusion The proband's hearing loss resulted from the compound heterozygous mutations N392Y and S448X for SLC26A4 gene.
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。
Conclusions Novel compound heterozygous nonsense mutation of KCNQ1 can cause JLNS.
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