A Homozygous Nonsense Mutation in the β3 Chain Gene of Laminin 5 (LAMB3) in Herlitz Junctional Epidermolysis Bullosa

Laminin 5 ◽

A Homozygous Nonsense Mutation in the α3 Chain Gene of Laminin 5 (LAMA3) in Herlitz Junctional Epidermolysis Bullosa: Prenatal Exclusion in a Fetus at Risk

Genomics ◽

10.1006/geno.1995.1246 ◽

1995 ◽

Vol 29 (1) ◽

pp. 282-284 ◽

Cited By ~ 40

Author(s):

John A. McGrath ◽

Sirpa Kivirikko ◽

Sabatino Ciatti ◽

Celia Moss ◽

M.Giles S. Dunnill ◽

...

Keyword(s):

At Risk ◽

Epidermolysis Bullosa ◽

Nonsense Mutation ◽

Chain Gene ◽

Laminin 5 ◽

A homozygous nonsense mutation in the 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa

Human Molecular Genetics ◽

10.1093/hmg/4.5.959 ◽

1995 ◽

Vol 4 (5) ◽

pp. 959-962 ◽

Cited By ~ 119

Author(s):

S. Kivirikko ◽

J. A. McGrath ◽

C. Baudoin ◽

D. Aberdam ◽

S. Ciatti ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Nonsense Mutation ◽

Chain Gene ◽

Laminin 5 ◽

A Homozygous Nonsense Mutation in Type XVII Collagen Gene (COL17A1) Uncovers an Alternatively Spliced mRNA Accounting for an Unusually Mild Form of Non-Herlitz Junctional Epidermolysis Bullosa

Journal of Investigative Dermatology ◽

10.1046/j.1523-1747.2001.00229.x ◽

2001 ◽

Vol 116 (1) ◽

pp. 182-187 ◽

Cited By ~ 27

Author(s):

Laura Ruzzi ◽

Patrizia Posteraro ◽

Giovanna Zambruno ◽

Daniele Castiglia ◽

Marina D'Alessio ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Nonsense Mutation ◽

Collagen Gene ◽

Mild Form ◽

Alternatively Spliced ◽

Homozygous Nonsense Mutation ◽

Xvii Collagen

A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosa

Human Molecular Genetics ◽

10.1093/hmg/3.10.1909 ◽

1994 ◽

Vol 3 (10) ◽

pp. 1909-1910 ◽

Cited By ~ 24

Author(s):

Christian Baudoin ◽

Corinne Miquel ◽

Laurent Gagnoux-Palacios ◽

Leena Pulkkinen ◽

Angela M. Christiano ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Nonsense Mutation ◽

A Recurrent Homozygous Nonsense Mutation within the LAMA3 Gene as a Cause of Herlitz Junctional Epidermolysis Bullosa in Patients of Pakistani Ancestry: Evidence for a Founder Effect

Journal of Investigative Dermatology ◽

10.1111/1523-1747.ep12346349 ◽

1996 ◽

Vol 106 (4) ◽

pp. 781-784 ◽

Cited By ~ 20

Author(s):

John A. McGrath ◽

Sirpa Kivirikko ◽

Sabatino Ciatti ◽

Celia Moss ◽

Angela M. Christiano ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Founder Effect ◽

Nonsense Mutation ◽

Cloning of the β3 chain gene (LAMB3) of human laminin 5, a candidate gene in junctional epidermolysis bullosa

Genomics ◽

10.1016/0888-7543(95)80125-6 ◽

1995 ◽

Vol 25 (1) ◽

pp. 192-198 ◽

Cited By ~ 43

Author(s):

Leena Pulkkinen ◽

Donald R. Gerecke ◽

Angela M. Christiano ◽

D.Wolfe Wagman ◽

Robert E. Burgeson ◽

...

Keyword(s):

Candidate Gene ◽

Epidermolysis Bullosa ◽

Chain Gene ◽

Laminin 5

LAMB3 gene mutations in a patient with herlitz junctional epidermolysis bullosa displaying immunoreactivity to laminin-5

Journal of Dermatological Science ◽

10.1016/s0923-1811(98)83242-8 ◽

1998 ◽

Vol 16 ◽

pp. S41

Author(s):

P. Posteraro ◽

M. El Hachem ◽

S. Cicuzza ◽

G. Meneguzzi ◽

G. Zambruno ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Gene Mutations ◽

Laminin 5

A Homozygous Nonsense Mutation within the Dystonin Gene Coding for the Coiled-Coil Domain of the Epithelial Isoform of BPAG1 Underlies a New Subtype of Autosomal Recessive Epidermolysis Bullosa Simplex

Journal of Investigative Dermatology ◽

10.1038/jid.2010.19 ◽

2010 ◽

Vol 130 (6) ◽

pp. 1551-1557 ◽

Cited By ~ 97

Author(s):

Richard W. Groves ◽

Lu Liu ◽

Patricia J. Dopping-Hepenstal ◽

Hugh S. Markus ◽

Patricia A. Lovell ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Nonsense Mutation ◽

Autosomal Recessive ◽

Coiled Coil ◽

Epidermolysis Bullosa Simplex ◽

Coiled Coil Domain ◽

Gene Coding ◽

A recurrent laminin 5 mutation in British patients with lethal (Herlitz) junctional epidermolysis bullosa: evidence for a mutational hotspot rather than propagation of an ancestral allele

British Journal of Dermatology ◽

10.1111/j.1365-2133.1997.tb03650.x ◽

1997 ◽

Vol 136 (5) ◽

pp. 674-677 ◽

Cited By ~ 14

Author(s):

G.H.S. ASHTON ◽

J.E. MELLERIO ◽

M.G.S. DUNNILL ◽

L. PULKKINEN ◽

A.M. CHRISTIANO ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Ancestral Allele ◽

Laminin 5

Immunohistochemical analysis of the skin in junctional epidermolysis bullosa using laminin 5 chain specific antibodies is of limited value in predicting the underlying gene mutation

British Journal of Dermatology ◽

10.1111/j.1365-2133.1997.tb03918.x ◽

1997 ◽

Vol 136 (6) ◽

pp. 817-822 ◽

Cited By ~ 22

Author(s):

J.R. MCMILLAN ◽

J.A. MCGRATH ◽

L. PULKKINEN ◽

A. KON ◽

R.E. BURGESON ◽

...

Keyword(s):

Gene Mutation ◽

Epidermolysis Bullosa ◽

Immunohistochemical Analysis ◽

Laminin 5 ◽

Specific Antibodies