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

Type Vii Collagen ◽

Glycine Substitution

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

10.1046/j.1523-1747.1998.00397.x ◽

1998 ◽

Vol 111 (5) ◽

pp. 744-750 ◽

Cited By ~ 30

Author(s):

Michela Terracina ◽

Patrizia Posteraro ◽

Giovanna Zambruno ◽

Daniele Castiglia ◽

Margit Schubert ◽

...

Keyword(s):

Splice Site ◽

Epidermolysis Bullosa ◽

Splice Site Mutation ◽

Compound Heterozygosity ◽

Mild Form ◽

Site Mutation ◽

Glycine Substitution ◽

Col7a1 Gene

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

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 ◽

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 ◽

Glycine Substitution Mutations in the Type VII Collagen Gene (COL7A1) in Dystrophic Epidermolysis Bullosa: Implications for Genetic Counseling

10.1111/1523-1747.ep12335324 ◽

1997 ◽

Vol 108 (2) ◽

pp. 224-228 ◽

Cited By ~ 37

Author(s):

Atsushi Kon ◽

John A. McGrath ◽

Leena Pulkkinen ◽

Kazuo Nomura ◽

Takehiko Nakamura ◽

...

Keyword(s):

Genetic Counseling ◽

Epidermolysis Bullosa ◽

Collagen Gene ◽

Type Vii Collagen ◽

Glycine Substitution ◽

Substitution Mutations

Premature Termination Codons in the Type VII Collagen Gene (COL7A1) Underlie Severe, Mutilating Recessive Dystrophic Epidermolysis Bullosa

Genomics ◽

10.1006/geno.1994.1238 ◽

1994 ◽

Vol 21 (1) ◽

pp. 160-168 ◽

Cited By ~ 96

Author(s):

Angela M. Christiano ◽

Grant Anhalt ◽

Sheila Gibbons ◽

Eugene A. Bauer ◽

Jouni Uitto

Keyword(s):

Epidermolysis Bullosa ◽

Premature Termination ◽

Collagen Gene ◽

Type Vii Collagen ◽

Premature Termination Codons ◽

A recurrent frameshift mutation in exon 19 of the type VII collagen gene (COL7A1) in Mexican patients with recessive dystrophic epidermolysis bullosa

Experimental Dermatology ◽

10.1111/j.1600-0625.1999.tb00344.x ◽

1999 ◽

Vol 8 (1) ◽

pp. 22-29 ◽

Cited By ~ 5

Author(s):

J. E. Mellerio ◽

J. C. Salas-Alanis ◽

M. Amaya-Guera ◽

E. Tamez ◽

G. H. S. Ashton ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Frameshift Mutation ◽

Collagen Gene ◽

Type Vii Collagen ◽

Exon 19 ◽

Mexican Patients

Recurrent Mutations in the Type VII Collagen Gene (COL7A1) in Patients with Recessive Dystrophic Epidermolysis Bullosa

10.1111/1523-1747.ep12319792 ◽

1997 ◽

Vol 109 (2) ◽

pp. 246-249 ◽

Cited By ~ 45

Author(s):

Jemima E. Mellerio ◽

M.Giles S. Dunnill ◽

Waridibe Allison ◽

Gabrielle H.S. Ashton ◽

Angela M. Christiano ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Collagen Gene ◽

Type Vii Collagen ◽

Recurrent Mutations ◽

Premature Termination Codon Mutations in the Type VII Collagen Gene in Recessive Dystrophic Epidermolysis Bullosa Result in Nonsense-Mediated mRNA Decay and Absence of Functional Protein

10.1111/1523-1747.ep12336276 ◽

1997 ◽

Vol 109 (3) ◽

pp. 390-394 ◽

Cited By ~ 42

Author(s):

Angela M. Christiano ◽

Satoshi Amano ◽

Lawrence F. Eichenfield ◽

Robert E. Burgeson ◽

Jouni Uitto

Keyword(s):

Epidermolysis Bullosa ◽

Mrna Decay ◽

Premature Termination Codon ◽

Termination Codon ◽

Collagen Gene ◽

Functional Protein ◽

Type Vii Collagen ◽

Nonsense Mediated Mrna Decay ◽

Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene.

Journal of Clinical Investigation ◽

10.1172/jci115916 ◽

1992 ◽

Vol 90 (3) ◽

pp. 1032-1036 ◽

Cited By ~ 96

Author(s):

A Hovnanian ◽

P Duquesnoy ◽

C Blanchet-Bardon ◽

R G Knowlton ◽

S Amselem ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Genetic Linkage ◽

Collagen Gene ◽

Type Vii Collagen ◽