Mitochondrial Complex Iv Deficiency, Nuclear Type 15 (MC4DN15)

Alias:
Mc4dn15
Mitochondrial Complex 4 Deficiency, Nuclear Type 15
Mitochondrial Complex Iv Deficiency Nuclear Type 15
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
线粒体复合体IV缺乏症,核型15,也称为MC4DN15。与线粒体复合体IV缺乏症,核型15有关的重要基因是COX8A(细胞色素C氧化酶亚基8A)。相关组织包括脑和眼,相关表型为痉挛和脊柱侧弯。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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1
2
1

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
No Data Found!
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