Exempting Homologous Pseudogene Sequences from Polymerase Chain Reaction Amplification Allows Genomic Keratin 14 Hotspot Mutation Analysis-Reference-Cited by-同舟云学术

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Exempting Homologous Pseudogene Sequences from Polymerase Chain Reaction Amplification Allows Genomic Keratin 14 Hotspot Mutation Analysis

Published:2000-04 Issue:4 Volume:114 Page:616-619
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Hut Petra H.L.,Vlies Pieter v.d.,Verlind Edwin,Buys Charles H.C.M.,Scheffer Hans,Jonkman Marcel F.,Shimizu Hiroshi

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference38 articles.

1. Epidermolysis bullosa herpetiformis Dowling-Meara. Report of a case and pathomorphogenesis;Anton;Dermatologica,1982

2. Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities;Bonifas;Science,1991

3. A human keratin 14 ‘‘knock out’': the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein;Chan;Genes Dev,1994

4. Genetic analysis of a severe case of Dowling-Meara epidermolysis bullosa simplex;Chan;J Invest Dermatol,1996

5. A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simplex: delta E375;Chen;Hum Mol Genet,1993

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1. Evolution of genome diagnostics in epidermolysis bullosa: Unveiling the power of next‐generation sequencing;Journal of the European Academy of Dermatology and Venereology;2024-03-11

2. A novel KRT14 null mutation leads to autosomal recessive epidermolysis bullosa simplex;Clinical and Experimental Dermatology;2022-12-22

3. Epidermolysis Bullosa—A Different Genetic Approach in Correlation with Genetic Heterogeneity;Diagnostics;2022-05-27

4. Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82;Nature Communications;2022-02-10

5. Molecular Modeling of Pathogenic Mutations in the Keratin 1B Domain;International Journal of Molecular Sciences;2020-09-10

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