Detection of type VII collagen gene mutations in dystrophic froms of epidermolysis bullosa patients by PCR-SSCP and PCR-RFLP analyses

Identification of novel type VII collagen gene mutations resulting in severe recessive dystrophic epidermolysis bullosa

Clinical and Experimental Dermatology ◽

10.1111/j.1365-2230.2005.01763.x ◽

2005 ◽

Vol 30 (3) ◽

pp. 289-293 ◽

Cited By ~ 7

Author(s):

M. Masse ◽

P. B. Cserhalmi-Friedman ◽

V. Falanga ◽

J. T. Celebi ◽

A. Martinez-Mir ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Gene Mutations ◽

Collagen Gene ◽

Type Vii Collagen ◽

Type VII Collagen Gene Mutations (c.8569G>T and c.4879G>A) Result in the Moderately Severe Phenotype of Recessive Dystrophic Epidermolysis Bullosa in a Korean Patient

Journal of Korean Medical Science ◽

10.3346/jkms.2009.24.2.256 ◽

2009 ◽

Vol 24 (2) ◽

pp. 256 ◽

Cited By ~ 1

Author(s):

Jae-We Cho ◽

Hajime Nakano ◽

Kyu-Suk Lee

Keyword(s):

Epidermolysis Bullosa ◽

Gene Mutations ◽

Collagen Gene ◽

Severe Phenotype ◽

Korean Patient ◽

Type Vii Collagen ◽

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

Journal of Investigative Dermatology ◽

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

Heterogeneous Mutations of the Type VII Collagen Gene (COL7A1) in Dystrophic Epidermolysis Bullosa

Clinical Science ◽

10.1042/cs098018p ◽

2000 ◽

Vol 98 (s42) ◽

pp. 18P-18P

Author(s):

JE Mellerio ◽

GHS Ashton ◽

MGS Dunnill ◽

RAJ Eady ◽

JA McGrath

Keyword(s):

Epidermolysis Bullosa ◽

Collagen Gene ◽

Type Vii Collagen

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 ◽

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 ◽

Recessive Dystrophic Epidermolysis Bullosa ◽

Glycine Substitution

Molecular basis for the dystrophic forms of epidermolysis bullosa: mutations in the type VII collagen gene

Archives of Dermatological Research ◽

10.1007/bf00370713 ◽

1994 ◽

Vol 287 (1) ◽

pp. 16-22 ◽

Cited By ~ 88

Author(s):

Jouni Uitto ◽

Angela M. Christiano

Keyword(s):

Epidermolysis Bullosa ◽

Molecular Basis ◽

Collagen Gene ◽

Type Vii Collagen

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 ◽

Recessive Dystrophic Epidermolysis Bullosa ◽

Exon 19 ◽

Mexican Patients

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

Journal of Investigative Dermatology ◽

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

Journal of Investigative Dermatology ◽

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 ◽