Compound Heterozygosity for an Out-of-Frame Deletion and a Splice Site Mutation in the LAMB3 Gene Causes Nonlethal Junctional Epidermolysis Bullosa

P. Posteraro; S. Sorvillo; L. Gagnoux-Palacios; C. Angelo; M. Paradisi; G. Meneguzzi; D. Castiglia; G. Zambruno

doi:10.1006/bbrc.1998.8180

Compound Heterozygosity for an Out-of-Frame Deletion and a Splice Site Mutation in the LAMB3 Gene Causes Nonlethal Junctional Epidermolysis Bullosa

Biochemical and Biophysical Research Communications ◽

10.1006/bbrc.1998.8180 ◽

1998 ◽

Vol 243 (3) ◽

pp. 758-764 ◽

Cited By ~ 20

Author(s):

P. Posteraro ◽

S. Sorvillo ◽

L. Gagnoux-Palacios ◽

C. Angelo ◽

M. Paradisi ◽

...

Keyword(s):

Splice Site ◽

Epidermolysis Bullosa ◽

Splice Site Mutation ◽

Compound Heterozygosity ◽

Site Mutation ◽

Junctional Epidermolysis Bullosa

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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

Journal of Investigative Dermatology ◽

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 ◽

Dystrophic Epidermolysis Bullosa ◽

Recessive Dystrophic Epidermolysis Bullosa ◽

Glycine Substitution ◽

Col7a1 Gene

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A de novo COL17A1 splice-site mutation causing a 7-bp deletion in a Taiwanese patient with junctional epidermolysis bullosa

European Journal of Dermatology ◽

10.1684/ejd.2021.4011 ◽

2021 ◽

Vol 31 (2) ◽

pp. 267-269

Author(s):

Ping-Chen Hou ◽

Wei-Ting Tu ◽

Peng-Chieh Chen ◽

Bryan Edgar K. Guevara ◽

Yu-Fen Yen ◽

...

Keyword(s):

Splice Site ◽

Epidermolysis Bullosa ◽

De Novo ◽

Splice Site Mutation ◽

Site Mutation ◽

Junctional Epidermolysis Bullosa ◽

Taiwanese Patient

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Truncated Type XVII Collagen Expression in a Patient with Non-Herlitz Junctional Epidermolysis Bullosa Caused by a Homozygous Splice-Site Mutation

Laboratory Investigation ◽

10.1038/labinvest.3780297 ◽

2001 ◽

Vol 81 (6) ◽

pp. 887-894 ◽

Cited By ~ 10

Author(s):

Manuel R van Leusden ◽

Hendri H Pas ◽

Tobias Gedde-Dahl ◽

Arnoud Sonnenberg ◽

Marcel F Jonkman

Keyword(s):

Splice Site ◽

Epidermolysis Bullosa ◽

Splice Site Mutation ◽

Site Mutation ◽

Junctional Epidermolysis Bullosa ◽

Collagen Expression ◽

Xvii Collagen

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Molecular basis of non-lethal junctional epidermolysis bullosa: identification of a 38 basepair insertion and a splice site mutation in exon 14 of the LAMB3 gene

Experimental Dermatology ◽

10.1111/j.1600-0625.1998.tb00309.x ◽

1998 ◽

Vol 7 (2-3) ◽

pp. 105-111 ◽

Cited By ~ 5

Author(s):

P. B. Cserhalmi-Friedman ◽

H. Baden ◽

R. E. Burgeson ◽

A. M. Christiano

Keyword(s):

Splice Site ◽

Epidermolysis Bullosa ◽

Molecular Basis ◽

Splice Site Mutation ◽

Site Mutation ◽

Junctional Epidermolysis Bullosa

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A Japanese-specific recurrent mutation and a novel splice site mutation in the LAMC2 gene identified in two Japanese families with Herlitz junctional epidermolysis bullosa

Clinical and Experimental Dermatology ◽

10.1111/j.1365-2230.2010.03982.x ◽

2010 ◽

Vol 36 (4) ◽

pp. 386-392

Author(s):

M. Kouno ◽

R. Ko ◽

A. Shimizu ◽

T. Ouchi ◽

K. Sueoka ◽

...

Keyword(s):

Splice Site ◽

Epidermolysis Bullosa ◽

Splice Site Mutation ◽

Recurrent Mutation ◽

Site Mutation ◽

Junctional Epidermolysis Bullosa

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A founder COL17A1 splice site mutation leading to generalized atrophic benign epidermolysis bullosa in an extended inbred Palestinian family from Israel

Genetics in Medicine ◽

10.1097/01.gim.0000096494.61125.d8 ◽

2003 ◽

Vol 5 (6) ◽

pp. 435-439 ◽

Cited By ~ 2

Author(s):

Neil Vincent Whittock ◽

Carron Sher ◽

Isaac Gold ◽

Vitalia Libman ◽

Orit Reish

Keyword(s):

Splice Site ◽

Epidermolysis Bullosa ◽

Splice Site Mutation ◽

Site Mutation

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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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Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene

Human Molecular Genetics ◽

10.1093/hmg/6.7.1125 ◽

1997 ◽

Vol 6 (7) ◽

pp. 1125-1135 ◽

Cited By ~ 35

Author(s):

J. Winberg

Keyword(s):

Missense Mutation ◽

Disease Severity ◽

Splice Site ◽

Epidermolysis Bullosa ◽

Splice Site Mutation ◽

Site Mutation ◽

Dystrophic Epidermolysis Bullosa ◽

Col7a1 Gene

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A novel family with recessive von Willebrand disease due to compound heterozygosity for a splice site mutation and a missense mutation in the von Willebrand factor gene

Thrombosis Research ◽

10.1016/s0049-3848(02)00007-5 ◽

2002 ◽

Vol 105 (2) ◽

pp. 135-138 ◽

Cited By ~ 8

Author(s):

Giancarlo Castaman ◽

Elisabetta Novella ◽

Evelina Castiglia ◽

Jeroen C.J Eikenboom ◽

Francesco Rodeghiero

Keyword(s):

Missense Mutation ◽

Von Willebrand Factor ◽

Splice Site ◽

Splice Site Mutation ◽

Von Willebrand Disease ◽

Compound Heterozygosity ◽

Site Mutation ◽

Factor Gene ◽

Von Willebrand ◽

Willebrand Factor

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Pretibial dystrophic epidermolysis bullosa: a recessively inherited COL7A1 splice site mutation affecting procollagen VII processing

British Journal of Dermatology ◽

10.1046/j.1365-2133.1999.03155.x ◽

1999 ◽

Vol 141 (5) ◽

pp. 833-839 ◽

Cited By ~ 17

Author(s):

C.M. Betts ◽

P. Posteraro ◽

A.M. Costa ◽

C. Varotti ◽

M. Schubert ◽

...

Keyword(s):

Splice Site ◽

Epidermolysis Bullosa ◽

Splice Site Mutation ◽

Site Mutation ◽

Dystrophic Epidermolysis Bullosa

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