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中文
在第8外显子插入了一个导致终止密码子在第486位的酪氨酸(替换为p.Y486*)，同时第8和9外显子之间的部分内含子被PGK-诺卡因筛选 cassette 替换。RT-PCR和 Western blot 分析显示，纯合子中mRNA和蛋白质的表达量都非常低。Y486*突变等同于2Q型Charcot-Marie-Tooth病中观察到的Y485*变异。(引用：J:288186)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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References Literature
Title
PMID
Journal
Year
IF
