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第5外显子被替换成一个新剪接子。这个外显子对于蛋白质产物的催化区域至关重要。通过Northern blot对心脏、肝脏、骨骼和肾脏组织的提取物进行分析，确认了突变转录本的缺失。(来源：J:128989)
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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| Phenotypes |
|---|
References Literature
Title
PMID
Journal
Year
IF
