A Phenotype Resembling the Clouston Syndrome with Deafness Is Associated with a Novel Missense GJB2 Mutation-Reference-Cited by-同舟云学术

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A Phenotype Resembling the Clouston Syndrome with Deafness Is Associated with a Novel Missense GJB2 Mutation

Published:2004-08 Issue:2 Volume:123 Page:291-293
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

van Steensel Maurice A.M.,Steijlen Peter M.,Bladergroen Reno S.,Hoefsloot Elisabeth H.,van Ravenswaaij-Arts Connie M.,van Geel Michel

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference11 articles.

1. Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus;Grifa;Nat Genet,1999

2. Human disease: Clues to cracking the connexin code?;Kelsell;Trends Cell Biol,2001

3. Mutations in GJB6 cause hidrotic ectodermal dysplasia;Lamartine;Nat Genet,2000

4. Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30;Marziano;Hum Mol Genet,2003

5. A simple salting out procedure for extracting DNA from human nucleated cells;Miller;Nucleic Acids Res,1988

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2. Connexin Mutations and Hereditary Diseases;International Journal of Molecular Sciences;2022-04-12

3. A novel voltage-clamp/dye uptake assay reveals saturable transport of molecules through CALHM1 and connexin channels;Journal of General Physiology;2020-10-19

4. Extending the phenotypic spectrum associated with mosaicism for GJB2 mutations;British Journal of Dermatology;2019-05-12

5. Keratoderma-Deafness-Mucocutaneous Syndrome Associated with Phe142Leu in the GJB2 Gene;Acta Dermato Venereologica;2019

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