Identification of a Novel Mutation R42P in the Gap Junction Protein β-3 Associated with Autosomal Dominant Erythrokeratoderma Variabilis-Reference-Cited by-同舟云学术

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Identification of a Novel Mutation R42P in the Gap Junction Protein β-3 Associated with Autosomal Dominant Erythrokeratoderma Variabilis

Published:1999-12 Issue:6 Volume:113 Page:1119-1122
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Wilgoss Amanda,Leigh Irene M.,Kelsell David P.,Barnes Michael R.,Dopping-Hepenstal Patricia,Eady Robin A.J.,Walter Joanne M.,Kennedy Cameron T.C.

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference14 articles.

1. Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families;Coucke;Hum Mol Genet,1999

2. Transmission electron microscopy;Eady,1985

3. Genetic linkage studies in non-epidermolytic palmoplantar keratoderma: evidence for heterogeneity;Kelsell;Hum Mol Genet,1995

4. Linkage studies in erythrokeratodermias; fine mapping, genetic heterogeneity and analysis of candidate genes;Richard;J Invest Dermatol,1997

5. Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis;Richard;Nat Genet,1998

Cited by 72 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A Connexin Gene (GJB3) Mutation in a Chinese Family With Erythrokeratodermia Variabilis, Ichthyosis and Nonsyndromic Hearing Loss: Case Report and Mutations Update;Frontiers in Genetics;2022-05-23

2. Interrogation of Carboxy-Terminus Localized GJA1 Variants Associated with Erythrokeratodermia Variabilis et Progressiva;International Journal of Molecular Sciences;2022-01-01

3. Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis—Like Autosomal Recessive Congenital Ichthyosis;PLOS ONE;2021-10-20

4. Erythrokeratoderma variabilis (EKV) – First Nepalese case documenting GJB3 mutation;Skin Health and Disease;2021-08-17

5. Exome Sequencing Identifies a Novel Nonsense Mutation of MYO6 as the Cause of Deafness in a Brazilian Family;Annals of Human Genetics;2017-10-17

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