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

Type Vii Collagen ◽

Recurrent 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 ◽

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

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

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 ◽

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 ◽

Use of type VII collagen gene (COL7A1) markers in prenatal diagnosis of recessive dystrophic epidermolysis bullosa.

Journal of Medical Genetics ◽

10.1136/jmg.32.9.749 ◽

1995 ◽

Vol 32 (9) ◽

pp. 749-750 ◽

Cited By ~ 10

Author(s):

M G Dunnill ◽

C H Rodeck ◽

A J Richards ◽

D Atherton ◽

B D Lake ◽

...

Keyword(s):

Prenatal Diagnosis ◽

Epidermolysis Bullosa ◽

Collagen Gene ◽

Type Vii Collagen ◽

Characterization of mutations of the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa mitis (M-RDEB) from three Korean patients

Journal of Dermatological Science ◽

10.1016/s0923-1811(00)00168-7 ◽

2001 ◽

Vol 26 (2) ◽

pp. 125-132 ◽

Cited By ~ 13

Author(s):

Young-Wook Ryoo ◽

Byung-Chun Kim ◽

Kyu-Suk Lee

Keyword(s):

Epidermolysis Bullosa ◽

Collagen Gene ◽

Korean Patients ◽

Type Vii Collagen ◽

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 ◽

Genetic linkage to the type VII collagen gene (COL7A1) in 26 families with generalised recessive dystrophic epidermolysis bullosa and anchoring fibril abnormalities.

Journal of Medical Genetics ◽

10.1136/jmg.31.10.745 ◽

1994 ◽

Vol 31 (10) ◽

pp. 745-748 ◽

Cited By ~ 23

Author(s):

M G Dunnill ◽

A J Richards ◽

G Milana ◽

F Mollica ◽

D Atherton ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Genetic Linkage ◽

Collagen Gene ◽

Type Vii Collagen ◽

Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa.

Journal of Clinical Investigation ◽

10.1172/jci117783 ◽

1995 ◽

Vol 95 (3) ◽

pp. 1328-1334 ◽

Cited By ~ 36

Author(s):

A M Christiano ◽

Y Suga ◽

D S Greenspan ◽

H Ogawa ◽

J Uitto

Keyword(s):

Epidermolysis Bullosa ◽

Premature Termination ◽

Collagen Gene ◽

Type Vii Collagen ◽

Premature Termination Codons ◽