Epidermolysis Bullosa, Junctional 2a, Intermediate (JEB2A)

Alias:
Epidermolysis Bullosa, Junctional 2a, Generalized Intermediate
Epidermolysis Bullosa, Junctional 2a, Non-Herlitz Type
Jeb2a
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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
表皮松解性水疱病,联合型2a,中间型,也被称为表皮松解性水疱病,联合型2a,普遍中间型。与表皮松解性水疱病,联合型2a,中间型相关的重要的基因是LAMA3(层粘连蛋白亚基α3)。关联的组织包括皮肤,相关表型是皮肤异常起水疱和口腔黏膜水疱。
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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
4
2

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

Title
PMID
Journal
Year
IF
No Data Found!
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