A Novel Nonsense Mutation at E106 of the 2B Rod Domain of Keratin 14 Causes Dominant Epidermolysis Bullosa Simplex

The Journal of Dermatology ◽

10.1111/j.1346-8138.2002.tb00236.x ◽

2002 ◽

Vol 29 (3) ◽

pp. 136-145 ◽

Author(s):

Li-Hong Gu ◽

Yoshiro Ichiki ◽

Miki Sato ◽

Yasuo Kitajima

Keyword(s):

Epidermolysis Bullosa ◽

Nonsense Mutation ◽

Epidermolysis Bullosa Simplex ◽

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A recurrent keratin 14 mutation in Dowling-Meara epidermolysis bullosa simplex

British Journal of Dermatology ◽

10.1046/j.1365-2133.1999.03124.x ◽

1999 ◽

Vol 141 (4) ◽

pp. 747-748 ◽

Author(s):

Sasaki ◽

Shimizu ◽

Akiyama ◽

Hiraoka ◽

Takizawa ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Epidermolysis Bullosa Simplex ◽

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A Homozygous Nonsense Mutation within the Dystonin Gene Coding for the Coiled-Coil Domain of the Epithelial Isoform of BPAG1 Underlies a New Subtype of Autosomal Recessive Epidermolysis Bullosa Simplex

Journal of Investigative Dermatology ◽

10.1038/jid.2010.19 ◽

2010 ◽

Vol 130 (6) ◽

pp. 1551-1557 ◽

Author(s):

Richard W. Groves ◽

Lu Liu ◽

Patricia J. Dopping-Hepenstal ◽

Hugh S. Markus ◽

Patricia A. Lovell ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Nonsense Mutation ◽

Autosomal Recessive ◽

Coiled Coil ◽

Epidermolysis Bullosa Simplex ◽

Coiled Coil Domain ◽

Gene Coding ◽

Homozygous Nonsense Mutation

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LB795 TALEN-mediated elimination of mutant keratin 14 as a gene therapy for epidermolysis bullosa simplex

Journal of Investigative Dermatology ◽

10.1016/j.jid.2016.05.047 ◽

2016 ◽

Vol 136 (8) ◽

pp. B8

Author(s):

M. Aushev ◽

C. Mussolino ◽

T. Cathomen ◽

J. Reichelt

Keyword(s):

Gene Therapy ◽

Epidermolysis Bullosa ◽

Epidermolysis Bullosa Simplex ◽

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A recurrent keratin 14 mutation in Dowling-Meara epidermolysis bullosa simplex in a Chinese family

Journal of the European Academy of Dermatology and Venereology ◽

10.1111/j.1468-3083.2008.02930.x ◽

2009 ◽

Vol 23 (4) ◽

pp. 484-486 ◽

Author(s):

JW Wu ◽

SX Xiao

Keyword(s):

Epidermolysis Bullosa ◽

Chinese Family ◽

Epidermolysis Bullosa Simplex ◽

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A novel homozygous nonsense deletion/insertion mutation in the keratin 14 gene (Y248X; 744delC/insAG) causes recessive epidermolysis bullosa simplex type Köbner

Clinical and Experimental Dermatology ◽

10.1046/j.1365-2230.2003.01218.x ◽

2003 ◽

Vol 28 (1) ◽

pp. 77-79 ◽

Author(s):

C. M. Lanschuetzer ◽

A. Klausegger ◽

G. Pohla-Gubo ◽

R. Hametner ◽

G. Richard ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Insertion Mutation ◽

Epidermolysis Bullosa Simplex ◽

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A mutation in exon 1 of keratin 14 resulting in a Chinese family with epidermolysis bullosa simplex Dowling-Meara

Journal of the European Academy of Dermatology and Venereology ◽

10.1111/j.1468-3083.2006.02050.x ◽

2007 ◽

Vol 21 (7) ◽

pp. 979-981 ◽

Keyword(s):

Epidermolysis Bullosa ◽

Chinese Family ◽

Epidermolysis Bullosa Simplex ◽

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A novel homozygous keratin 14 mutation in a patient with autosomal recessive epidermolysis bullosa simplex and squamous cell carcinoma of the tongue

British Journal of Dermatology ◽

10.1111/j.1365-2133.2009.09614.x ◽

2010 ◽

Vol 162 (4) ◽

pp. 880-882 ◽

Author(s):

J.O. Baek ◽

H.Y. Lee ◽

S.W. Oh ◽

J.S. Lee ◽

S.C. Kim ◽

...

Keyword(s):

Squamous Cell Carcinoma ◽

Cell Carcinoma ◽

Squamous Cell ◽

Epidermolysis Bullosa ◽

Autosomal Recessive ◽

Epidermolysis Bullosa Simplex ◽

Carcinoma Of The Tongue

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Homozygous Nonsense Mutation and Additional Deletion of an Amino Acid in BPAG1e Causing Mild Localized Epidermolysis Bullosa Simplex

Acta Dermato Venereologica ◽

10.2340/00015555-2618 ◽

2017 ◽

Vol 97 (5) ◽

pp. 657-659 ◽

Author(s):

Y He ◽

J Leppert ◽

H Steinke ◽

C Has

Keyword(s):

Epidermolysis Bullosa ◽

Nonsense Mutation ◽

Epidermolysis Bullosa Simplex ◽

Homozygous Nonsense Mutation

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Corrections to: "Easy Method for Keratin 14 Gene Amplification to Exclude Pseudogene Sequences: New Keratin 5 and 14 Mutations in Epidermolysis Bullosa Simplex"

Journal of Investigative Dermatology ◽

10.1038/jid.2009.167 ◽

2009 ◽

Vol 129 (7) ◽

pp. 1838

Keyword(s):

Gene Amplification ◽

Epidermolysis Bullosa ◽

Epidermolysis Bullosa Simplex ◽

Easy Method ◽

Keratin 5 ◽

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

Experimental Dermatology ◽

10.1111/j.0906-6705.2004.0120.x ◽

2004 ◽

Vol 13 (3) ◽

pp. 185-191 ◽

Author(s):

Marta Csikos ◽

Zsuzsanna Szalai ◽

Krisztina Becker ◽

Bela Sebok ◽

Imre Schneider ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Gene Mutations ◽

Epidermolysis Bullosa Simplex ◽

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