Easy method for keratin 14 gene amplification to exclude pseudogene sequences: new keratin 5 and 14 mutations in epidermolysis bullosa simplex (Q81785625)

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scientific article published on 14 August 2008

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English	Easy method for keratin 14 gene amplification to exclude pseudogene sequences: new keratin 5 and 14 mutations in epidermolysis bullosa simplex	scientific article published on 14 August 2008

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scholarly article

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12 January 2020

Easy method for keratin 14 gene amplification to exclude pseudogene sequences: new keratin 5 and 14 mutations in epidermolysis bullosa simplex (English)

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12 January 2020

epidermolysis bullosa simplex

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inferred from title

2

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12 January 2020

Sarolta Kárpáti

9

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12 January 2020

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Annamária Glász-Bóna

1

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12 January 2020

Rachel Sajó

3

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12 January 2020

Réka Lepesi-Benko

4

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12 January 2020

Zsolt Tulassay

5

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12 January 2020

Mária Katona

6

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12 January 2020

Zsófia Hatvani

7

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12 January 2020

Antal Blazsek

8

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12 January 2020

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14 August 2008

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12 January 2020

Journal of Investigative Dermatology

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12 January 2020

129

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12 January 2020

1

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12 January 2020

229-231

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12 January 2020

https://scigraph.springernature.com/pub.10.1038/jid.2008.223

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Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

1 reference

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based on heuristic

inferred from DOI database lookup

Keratin 14 gene mutations in patients with epidermolysis bullosa simplex

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Novel keratin 14 gene mutations in patients from Hungary with epidermolysis bullosa simplex.

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High frequency of the 425A-->G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa

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Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry

1 reference

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A novel nonsense mutation at E106 of the 2B rod domain of keratin 14 causes dominant epidermolysis bullosa simplex

1 reference

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

1 reference

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Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation

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Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly.

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Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.

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Epidermolysis bullosa simplex in Scotland caused by a spectrum of keratin mutations.

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Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function

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Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations

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The Molecular Genetics of Keratin Disorders

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Functional testing of keratin 14 mutant proteins associated with the three major subtypes of epidermolysis bullosa simplex

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Primers for exon-specific amplification of the KRT5 gene: identification of novel and recurrent mutations in epidermolysis bullosa simplex patients

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Long-range polymerase chain reaction for specific full-length amplification of the human keratin 14 gene and novel keratin 14 mutations in epidermolysis bullosa simplex patients.

1 reference

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Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly

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