Two de novo GJA1 mutation in two sporadic patients with erythrokeratodermia variabilis et progressiva
Author:
Affiliation:
1. Department of Dermatology Nanfang Hospital, Southern Medical University Guangzhou China
2. Department of Dermatology Guangzhou Institute of Dermatology Guangzhou China
Funder
President Foundation of Nanfang Hospital, Southern Medical University
Science and Technology Development Program of Dongguan City
Publisher
Wiley
Subject
Genetics (clinical),Genetics,Molecular Biology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.670
Reference25 articles.
1. Transfer of Biologically Important Molecules Between Cells Through Gap Junction Channels
2. Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia
3. Structural Assessment ofPITX2,FOXC1,CYP1B1, andGJA1Genes in Patients with Axenfeld-Rieger Syndrome with Developmental Glaucoma
4. Next-Generation Connexin and Pannexin Cell Biology
5. Expression and function of connexin in normal and transformed human keratinocytes in culture
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