A case of epidermolysis bullosa simplex with a newly found missense mutation and polymorphism in the highly conserved helix termination motif among type I keratins, which was previously reported as a pathogenic missense mutation

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

Human Molecular Genetics ◽

10.1093/hmg/4.10.1999 ◽

1995 ◽

Vol 4 (10) ◽

pp. 1999-2000 ◽

Cited By ~ 10

Author(s):

Masato Matsuki ◽

Kohji Hashimoto ◽

Kunihlko Yoshikawa ◽

Hirokazu Yasuno ◽

Kiyofuml Yamanishi

Keyword(s):

Missense Mutation ◽

Epidermolysis Bullosa ◽

Keratin 5

A mutation (met→arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex

Human Mutation ◽

10.1002/humu.1380020107 ◽

1993 ◽

Vol 2 (1) ◽

pp. 37-42 ◽

Cited By ~ 48

Author(s):

Marian M. Humphries ◽

Denise M. Sheils ◽

Gwyneth J. Farrar ◽

Rajendra Kumar-Singh ◽

Paul F. Kenna ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Autosomal Dominant ◽

Type I ◽

G28 A Novel Missense Mutation in Keratin 1 Underlying Clinically Mild Epidermolytic Ichthyosis Mimicking Epidermolysis Bullosa Simplex Superficialis

Archives of Disease in Childhood ◽

10.1136/archdischild-2013-304107.041 ◽

2013 ◽

Vol 98 (Suppl 1) ◽

pp. A17-A18

Author(s):

A. MacKenzie ◽

P. Dopping-Hepenstal ◽

L. Ozoemena ◽

L. Liu ◽

K. Stone ◽

...

Keyword(s):

Missense Mutation ◽

Epidermolysis Bullosa ◽

Epidermolytic Ichthyosis ◽

Keratin 1

Plectin Missense Mutation p.Leu319Pro in the Pathogenesis of Autosomal Recessive Epidermolysis Bullosa Simplex

Acta Dermato Venereologica ◽

10.2340/00015555-3600 ◽

2020 ◽

Vol 100 (15) ◽

pp. adv00242

Author(s):

W Tu ◽

P Chen ◽

P Hou ◽

H Huang ◽

J Wang ◽

...

Keyword(s):

Missense Mutation ◽

Epidermolysis Bullosa ◽

Autosomal Recessive ◽

K5 D328E: A Novel Missense Mutation in the Linker 12 Domain of Keratin 5 Associated with Epidermolysis bullosa simplex (Weber-Cockayne)

Human Heredity ◽

10.1159/000022921 ◽

2000 ◽

Vol 50 (4) ◽

pp. 234-236 ◽

Cited By ~ 3

Author(s):

Mirjana Liovic ◽

Bozana Podrumac ◽

Vlasta Dragos ◽

Katja Vouk ◽

Radovan Komel

Keyword(s):

Missense Mutation ◽

Epidermolysis Bullosa ◽

Keratin 5

A Novel Recessive Missense Mutation in KRT14 Reveals Striking Phenotypic Heterogeneity in Epidermolysis Bullosa Simplex

Journal of Investigative Dermatology ◽

10.1111/j.0022-202x.2004.23555.x ◽

2005 ◽

Vol 124 (1) ◽

pp. 272-274 ◽

Cited By ~ 6

Author(s):

Margarita Indelman ◽

Reuven Bergman ◽

Eli Sprecher

Keyword(s):

Missense Mutation ◽

Epidermolysis Bullosa ◽

Phenotypic Heterogeneity ◽

Missense mutation at the helix termination region in the 2B domain of keratin 14 in a Japanese family with epidermolysis bullosa simplex, generalized, other

International Journal of Dermatology ◽

10.1111/j.1365-4632.2010.04702.x ◽

2011 ◽

Vol 50 (4) ◽

pp. 436-438 ◽

Cited By ~ 2

Author(s):

Sakae Kaneko ◽

Takahiro Hamada ◽

Yuko Kawano ◽

Takashi Hashimoto ◽

Eishin Morita

Keyword(s):

Missense Mutation ◽

Epidermolysis Bullosa ◽

Japanese Family ◽

Generalized Other ◽

Keratin 14

A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex

Nature Genetics ◽

10.1038/ng0493-327 ◽

1993 ◽

Vol 3 (4) ◽

pp. 327-332 ◽

Cited By ~ 96

Author(s):

A. Hovnanian ◽

E. Pollack ◽

L. Hilal ◽

A. Rochat ◽

C. Prost ◽

...

Keyword(s):

Missense Mutation ◽

Epidermolysis Bullosa ◽

Keratin 14

Treatment of Epidermolysis Bullosa Simplex (EBS) With Tetracycline

Archives of Dermatology ◽

10.1001/archderm.136.3.424-a ◽

2000 ◽

Vol 136 (3) ◽

pp. 424-a-425 ◽

Cited By ~ 11

Author(s):

N. K. Veien

Keyword(s):

Epidermolysis Bullosa ◽

Faculty Opinions recommendation of Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.718506474.793543194 ◽

2018 ◽

Author(s):

Cristina Has

Keyword(s):

Epidermolysis Bullosa ◽

Autosomal Recessive ◽

Founder Mutation ◽