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。
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。
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.
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