Compound Heterozygosity for a Recessive Glycine Substitution and a Splice Site Mutation in the COL7A1 Gene Causes an Unusually Mild Form of Localized Recessive Dystrophic Epidermolysis Bullosa

Glycine Substitution ◽

Col7a1 Gene

Identification of a glycine substitution and a splice site mutation in the type VII collagen gene in a proband with mitis recessive dystrophic epidermolysis bullosa

Archives of Dermatological Research ◽

10.1007/s004030050253 ◽

1997 ◽

Vol 289 (11) ◽

pp. 640-645 ◽

Cited By ~ 11

Author(s):

Peter B. Cserhalmi-Friedman ◽

Sarolta Karpati ◽

Attila Horvath ◽

A. M. Christiano

Keyword(s):

Splice Site ◽

Epidermolysis Bullosa ◽

Splice Site Mutation ◽

Collagen Gene ◽

Site Mutation ◽

Type Vii Collagen ◽

Glycine Substitution

Genotype–phenotype correlation in non-Hallopeau-Siemens recessive dystrophic epidermolysis bullosa: The splice site mutation c.6216+5G>T in the COL7A1 gene results in aberrant and normal splicings

Journal of Dermatological Science ◽

10.1016/j.jdermsci.2007.12.005 ◽

2008 ◽

Vol 50 (2) ◽

pp. 147-150 ◽

Cited By ~ 6

Author(s):

Takahiro Hamada ◽

Shunpei Fukuda ◽

Norito Ishii ◽

Sachiko Sakaguchi ◽

Takako Ishikawa ◽

...

Keyword(s):

Splice Site ◽

Epidermolysis Bullosa ◽

Splice Site Mutation ◽

Phenotype Correlation ◽

Site Mutation ◽

Genotype Phenotype Correlation ◽

Col7a1 Gene

Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene

Human Molecular Genetics ◽

10.1093/hmg/6.7.1125 ◽

1997 ◽

Vol 6 (7) ◽

pp. 1125-1135 ◽

Cited By ~ 35

Author(s):

J. Winberg

Keyword(s):

Missense Mutation ◽

Disease Severity ◽

Splice Site ◽

Epidermolysis Bullosa ◽

Splice Site Mutation ◽

Site Mutation ◽

Col7a1 Gene

Compound heterozygosity for premature termination codon and glycine substitution mutations in the COL7A1 gene in Korean siblings with a moderately severe phenotype of recessive dystrophic epidermolysis bullosa

Journal of Dermatological Science ◽

10.1016/j.jdermsci.2003.08.007 ◽

2003 ◽

Vol 33 (3) ◽

pp. 180-183 ◽

Cited By ~ 2

Author(s):

Jooyoung Kim ◽

Soo-Chan Kim ◽

Kana Yasukawa ◽

Hiroshi Shimizu

Keyword(s):

Epidermolysis Bullosa ◽

Premature Termination Codon ◽

Termination Codon ◽

Compound Heterozygosity ◽

Severe Phenotype ◽

Glycine Substitution ◽

Col7a1 Gene ◽

Substitution Mutations

A novel homozygous splice site mutation in COL7A1 in a Chinese patient with severe recessive dystrophic epidermolysis bullosa and squamous cell carcinoma

International Journal of Dermatology ◽

10.1111/j.1365-4632.2010.04642.x ◽

2010 ◽

Vol 50 (1) ◽

pp. 52-56 ◽

Cited By ~ 8

Author(s):

Lin Huang ◽

Yim-Ping Wong ◽

Andrew Burd

Keyword(s):

Squamous Cell Carcinoma ◽

Cell Carcinoma ◽

Squamous Cell ◽

Splice Site ◽

Epidermolysis Bullosa ◽

Splice Site Mutation ◽

Chinese Patient ◽

Site Mutation ◽

Recessive Dystrophic Epidermolysis Bullosa

Splice site mutation in COL7A1 resulting in aberrant in-frame transcripts identified in a case of recessive dystrophic epidermolysis bullosa, pretibial

The Journal of Dermatology ◽

10.1111/1346-8138.14271 ◽

2018 ◽

Vol 45 (6) ◽

pp. 742-745 ◽

Cited By ~ 2

Author(s):

Takuji Masunaga ◽

Akiharu Kubo ◽

Akira Ishiko

Keyword(s):

Splice Site ◽

Epidermolysis Bullosa ◽

Splice Site Mutation ◽

Site Mutation ◽

Recessive Dystrophic Epidermolysis Bullosa

Compound Heterozygosity for an Out-of-Frame Deletion and a Splice Site Mutation in the LAMB3 Gene Causes Nonlethal Junctional Epidermolysis Bullosa

Biochemical and Biophysical Research Communications ◽

10.1006/bbrc.1998.8180 ◽

1998 ◽

Vol 243 (3) ◽

pp. 758-764 ◽

Cited By ~ 20

Author(s):

P. Posteraro ◽

S. Sorvillo ◽

L. Gagnoux-Palacios ◽

C. Angelo ◽

M. Paradisi ◽

...

Keyword(s):

Splice Site ◽

Epidermolysis Bullosa ◽

Splice Site Mutation ◽

Compound Heterozygosity ◽

Site Mutation ◽

Junctional Epidermolysis Bullosa

Pretibial dystrophic epidermolysis bullosa: a recessively inherited COL7A1 splice site mutation affecting procollagen VII processing

British Journal of Dermatology ◽

10.1046/j.1365-2133.1999.03155.x ◽

1999 ◽

Vol 141 (5) ◽

pp. 833-839 ◽

Cited By ~ 17

Author(s):

C.M. Betts ◽

P. Posteraro ◽

A.M. Costa ◽

C. Varotti ◽

M. Schubert ◽

...

Keyword(s):

Splice Site ◽

Epidermolysis Bullosa ◽

Splice Site Mutation ◽

Site Mutation ◽

Dystrophic Epidermolysis Bullosa

A Novel Splice Site Mutation in Collagen Type VII Gene in a Chinese Family with Dominant Dystrophic Epidermolysis Bullosa Pruriginosa

Acta Dermato Venereologica ◽

10.1080/00015550260132479 ◽

2002 ◽

Vol 82 (3) ◽

pp. 187-191 ◽

Cited By ~ 22

Author(s):

Wei Jiang ◽

Dingfang Bu ◽

Yong Yang ◽

Xuejun Zhu

Keyword(s):

Splice Site ◽

Epidermolysis Bullosa ◽

Collagen Type ◽

Splice Site Mutation ◽

Chinese Family ◽

Site Mutation ◽

Collagen Type Vii

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

British Journal of Dermatology ◽

10.1111/j.1365-2133.2005.06542.x ◽

2005 ◽

Vol 152 (5) ◽

pp. 879-886 ◽

Cited By ~ 17

Author(s):

M. Csikos ◽

H.I. Szocs ◽

A. Laszik ◽

S. Mecklenbeck ◽

A. Horvath ◽

...

Keyword(s):

Central Europe ◽

Epidermolysis Bullosa ◽

High Frequency ◽

Mutation Detection ◽

Splice Site Mutation ◽

Novel Mutations ◽

Site Mutation ◽

Col7a1 Gene ◽

Detection Strategies