Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex. (Q54368660)

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2 February 2020

title

Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex (English)

1 reference

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2 February 2020

main subject

epidermolysis bullosa

1 reference

16

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Natividad Cuadrado Corrales

2 February 2020

9

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2 February 2020

Sara Llames

14

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2 February 2020

Lucia Martinez

17

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2 February 2020

María José Escámez

24

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2 February 2020

author name string

M García

1

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2 February 2020

J L Santiago

2

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2 February 2020

A Terrón

3

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2 February 2020

A Hernández-Martín

4

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2 February 2020

A Vicente

5

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2 February 2020

C Fortuny

6

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2 February 2020

R De Lucas

7

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2 February 2020

J C López

8

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2 February 2020

A Holguín

10

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2 February 2020

N Illera

11

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2 February 2020

B Duarte

12

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2 February 2020

C Sánchez-Jimeno

13

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2 February 2020

E García

15

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2 February 2020

D Castiglia

18

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2 February 2020

N De Luca

19

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2 February 2020

A Torrelo

20

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2 February 2020

D Mechan

21

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2 February 2020

D Baty

22

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2 February 2020

G Zambruno

23

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2 February 2020

M Del Río

25

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2 February 2020

language of work or name

English

0 references

publication date

1 September 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21623745%20AND%20SRC:MED&resulttype=core&format=json

British Journal of Dermatology

2 February 2020

published in

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2 February 2020

volume

165

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2 February 2020

issue

3

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2 February 2020

page(s)

683-692

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The National Epidermolysis Bullosa Registry

2 February 2020

cites work

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Epidermolysis bullosa in Northern Ireland

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Intermediate filament scaffolds fulfill mechanical, organizational, and signaling functions in the cytoplasm

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Keratin function in skin epithelia: a broadening palette with surprising shades

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Phenotypes, genotypes and their contribution to understanding keratin function

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Epidermolysis bullosa simplex in Israel: clinical and genetic features.

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21 January 2018

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Clinical heterogeneity in recessive epidermolysis bullosa due to mutations in the keratin 14 gene, KRT14.

21 January 2018

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The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB

21 January 2018

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Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.

21 January 2018

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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.

21 January 2018

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

21 January 2018

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Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases

21 January 2018

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Novel and recurrent mutations in Keratin 5 and 14 in Korean patients with Epidermolysis bullosa simplex

21 January 2018

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Keratin mutations in patients with epidermolysis bullosa simplex: correlations between phenotype severity and disturbance of intermediate filament molecular structure.

21 January 2018

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A mutation in the V1 domain of keratin 5 causes epidermolysis bullosa simplex with mottled pigmentation

21 January 2018

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Molecular confirmation of the unique phenotype of epidermolysis bullosa simplex with mottled pigmentation

21 January 2018

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Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Köbner type of epidermolysis bullosa simplex

21 January 2018

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Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analyses

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

21 January 2018

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Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides

21 January 2018

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21 January 2018

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Mutation screening of entire keratin 5 and keratin 14 genes and identification of a novel mutation in a Chinese family with epidermolysis bullosa simplex Dowling-Meara

21 January 2018

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Epidermolysis bullosa simplex (Weber-Cockayne) associated with a novel missense mutation of Asp328 to Val in Linker 12 domain of keratin 5.

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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