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

Fatima Rouan; Leena Pulkkinen; Jouni Uitto; Marcel F. Jonkman; Johann W. Bauer; Peter B. Cserhalmi-Friedman; Angela M. Christiano

doi:10.1046/j.1523-1747.1998.00422.x

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

Journal of Investigative Dermatology ◽

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 ◽

Dystrophic Epidermolysis Bullosa ◽

Type Vii Collagen ◽

Glycine Substitution ◽

Substitution Mutations

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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 ◽

Dystrophic Epidermolysis Bullosa ◽

Type Vii Collagen ◽

Glycine Substitution ◽

Substitution Mutations

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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 ◽

Dystrophic Epidermolysis Bullosa ◽

Type Vii Collagen ◽

Recessive Dystrophic Epidermolysis Bullosa ◽

Glycine Substitution

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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 ◽

Dystrophic Epidermolysis Bullosa ◽

Type Vii Collagen ◽

Glycine Substitution ◽

Substitution Mutation

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

British Journal of Dermatology ◽

10.1046/j.1365-2133.1998.02496.x ◽

1998 ◽

Vol 139 (4) ◽

pp. 730-737 ◽

Cited By ~ 25

Author(s):

Mellerio ◽

Salas-Alanis ◽

Talamantes ◽

Horn ◽

Tidman ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Collagen Gene ◽

Dystrophic Epidermolysis Bullosa ◽

Type Vii Collagen ◽

Glycine Substitution ◽

Substitution Mutation

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Identical Glycine Substitution Mutations in Type VII Collagen May Underlie Both Dominant and Recessive Forms of Dystrophic Epidermolysis Bullosa

Acta Dermato Venereologica ◽

10.2340/00015555-1053 ◽

2011 ◽

Vol 91 (3) ◽

pp. 262-266 ◽

Cited By ~ 17

Author(s):

JA McGrath ◽

N Almaani ◽

L Liu ◽

PJ Dopping-Hepenstal ◽

JE Lai-Cheong ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Dystrophic Epidermolysis Bullosa ◽

Type Vii Collagen ◽

Glycine Substitution ◽

Substitution Mutations

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

Journal of Investigative Dermatology ◽

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 ◽

Dystrophic Epidermolysis Bullosa ◽

Type Vii Collagen ◽

Glycine Substitution ◽

Substitution Mutation

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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 ◽

Dystrophic Epidermolysis Bullosa ◽

Type Vii Collagen ◽

Glycine Substitution

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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 ◽

Dystrophic Epidermolysis Bullosa ◽

Type Vii Collagen

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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 ◽

Dystrophic Epidermolysis Bullosa ◽

Type Vii Collagen ◽

Premature Termination Codons ◽

Recessive Dystrophic Epidermolysis Bullosa

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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 ◽

Dystrophic Epidermolysis Bullosa ◽

Type Vii Collagen ◽

Recessive Dystrophic Epidermolysis Bullosa ◽

Exon 19 ◽

Mexican Patients

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