A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa

Type Vii Collagen ◽

Glycine Substitution ◽

Substitution Mutation

Unusual dominant dystrophic epidermolysis bullosa phenotype caused by a novel glycine substitution mutation in the type VII collagen gene (COL7A1)

Journal of Dermatological Science ◽

10.1016/s0923-1811(98)83233-7 ◽

1998 ◽

Vol 16 ◽

pp. S40

Author(s):

M.F. Jonkman ◽

G. Moreno ◽

A.P. Oranie ◽

L. Pulkkinen ◽

J. Uitto

Keyword(s):

Epidermolysis Bullosa ◽

Collagen Gene ◽

Type Vii Collagen ◽

Glycine Substitution ◽

Substitution Mutation

Dominant Dystrophic Epidermolysis Bullosa (Pasini) Caused by a Novel Glycine Substitution Mutation in the Type VII Collagen Gene (COL7A1)

10.1046/j.1523-1747.1999.00568.x ◽

1999 ◽

Vol 112 (5) ◽

pp. 815-817 ◽

Cited By ~ 14

Author(s):

M.F. Jonkman ◽

G. Moreno ◽

F. Rouan ◽

A.P. Oranje ◽

L. Pulkkinen ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Collagen Gene ◽

Type Vii Collagen ◽

Glycine Substitution ◽

Substitution 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

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

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

10.1046/j.1523-1747.1998.00422.x ◽

1998 ◽

Vol 111 (6) ◽

pp. 1210-1213 ◽

Cited By ~ 30

Author(s):

Fatima Rouan ◽

Leena Pulkkinen ◽

Jouni Uitto ◽

Marcel F. Jonkman ◽

Johann W. Bauer ◽

...

Keyword(s):

Genetic Counseling ◽

Epidermolysis Bullosa ◽

Collagen Gene ◽

Type Vii Collagen ◽

Glycine Substitution ◽

Substitution Mutations

Identification of a de novo glycine substitution in the type VII collagen gene in a proband with mild dystrophic epidermolysis bullosa

Experimental Dermatology ◽

10.1111/j.1600-0625.1999.tb00363.x ◽

1999 ◽

Vol 8 (2) ◽

pp. 143-145 ◽

Cited By ~ 8

Author(s):

P. B. Cserhalmi-Friedman ◽

J. Grossman ◽

S. Karpati ◽

W. Ahmad ◽

A. Horvath ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

De Novo ◽

Collagen Gene ◽

Type Vii Collagen ◽

Glycine Substitution

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 ◽

Recessive Dystrophic Epidermolysis Bullosa

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 ◽

Recessive Dystrophic Epidermolysis Bullosa ◽

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 ◽

Recessive Dystrophic Epidermolysis Bullosa

Type Vii Collagen ◽

Recurrent Mutations ◽