结论ACI患者血浆型PAF - AH基因9号外显子突变基因型及突变等位基因显著增高。
ConclusionThe prevalence of the mutation genotype and the mutation allele of PAFAH exon 9 in patients with ACI is significantly increased.
这些突变均发生在酪氨酸激酶域的ATP结合域附近，突变为19号外显子上的缺失突变，或18和21号外显子上的替代突变。
The mutations, including in-frame deletions at exon 19 and substitutions at exon 18 or exon 21, cluster around ATP-binding pocket of TK domain.
目的研究中国人肝豆状核变性（WD）基因12号外显子的突变特征，为建立直接基因诊断的方法提供理论依据。
Objectives To study the feature of disease causing mutation of exon 12 of Wilson disease (WD) gene in Chinese and evaluate its value in direct gene diagnosis.
目的分析肝豆状核变性（WD）ATP7B基因8号外显子在中国人中的突变特点。
Objective To analyze the mutation characterization in exon 8 of ATP7B gene in Chinese Patients with Wilson disease(WD).
MYH9基因40个外显子和侧翼区未见致病突变（除25号外显子发生一同义突变，突变类型为A1143A）。
No pathogenic mutation was detected in the exon and franking regions of MYH9 gene except a synonymous mutation(A1143A) in the exon 25.
MYH9基因40个外显子和侧翼区未见致病突变（除25号外显子发生一同义突变，突变类型为A1143A）。
No pathogenic mutation was detected in the exon and franking regions of MYH9 gene except a synonymous mutation(A1143A) in the exon 25.
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