×
Entrez Id:
3914
Gene Symbol:
LAMB3
LAMB3
0.920
GeneticVariation
disease
CLINVAR
Lack of K140 immunoreactivity in junctional epidermolysis bullosa skin and keratinocytes associates with misfolded laminin epidermal growth factor-like motif 2 of the β3 short arm.
28561256
2018
×
Entrez Id:
3914
Gene Symbol:
LAMB3
LAMB3
0.920
CausalMutation
disease
CLINVAR
Molecular epidemiology of junctional epidermolysis bullosa: discovery of novel and frequent LAMB3 mutations in Chilean patients with diagnostic significance.
27480391
2017
×
Entrez Id:
3914
Gene Symbol:
LAMB3
LAMB3
0.920
GeneticVariation
disease
CLINVAR
Identification of a Novel Mutation of LAMB3 Gene in a Lybian Patient with Hereditary Epidermolysis Bullosa by Whole Exome Sequencing.
28392661
2017
×
Entrez Id:
3914
Gene Symbol:
LAMB3
LAMB3
0.920
CausalMutation
disease
CLINVAR
Dermal eosinophilic infiltrate in junctional epidermolysis bullosa.
25950805
2015
×
Entrez Id:
3914
Gene Symbol:
LAMB3
LAMB3
0.920
CausalMutation
disease
CLINVAR
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
25525159
2015
×
Entrez Id:
3914
Gene Symbol:
LAMB3
LAMB3
0.920
CausalMutation
disease
CLINVAR
Junctional epidermolysis bullosa with LAMB3 splice-site mutations.
25708563
2015
×
Entrez Id:
3914
Gene Symbol:
LAMB3
LAMB3
0.920
GeneticVariation
disease
CLINVAR
Herlitz junctional epidermolysis bullosa with a novel mutation in LAMB3.
23278291
2015
×
Entrez Id:
3914
Gene Symbol:
LAMB3
LAMB3
0.920
GeneticVariation
disease
CLINVAR
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
25525159
2015
×
Entrez Id:
3914
Gene Symbol:
LAMB3
LAMB3
0.920
GeneticVariation
disease
CLINVAR
Junctional epidermolysis bullosa with LAMB3 splice-site mutations.
25708563
2015
×
Entrez Id:
3914
Gene Symbol:
LAMB3
LAMB3
0.920
Biomarker
disease
MGD
A new mouse model of junctional epidermolysis bullosa: the LAMB3 628G>A knockin mouse.
25350318
2015
×
Entrez Id:
3914
Gene Symbol:
LAMB3
LAMB3
0.920
CausalMutation
disease
CLINVAR
Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory.
24947307
2015
×
Entrez Id:
3914
Gene Symbol:
LAMB3
LAMB3
0.920
GeneticVariation
disease
CLINVAR
Keratinocytes from induced pluripotent stem cells in junctional epidermolysis bullosa.
22931927
2013
×
Entrez Id:
3914
Gene Symbol:
LAMB3
LAMB3
0.920
CausalMutation
disease
CLINVAR
Herlitz junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands.
21801158
2011
×
Entrez Id:
3914
Gene Symbol:
LAMB3
LAMB3
0.920
GeneticVariation
disease
CLINVAR
Herlitz junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands.
21801158
2011
×
Entrez Id:
3914
Gene Symbol:
LAMB3
LAMB3
0.920
CausalMutation
disease
CLINVAR
Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3.
17476356
2007
×
Entrez Id:
3914
Gene Symbol:
LAMB3
LAMB3
0.920
CausalMutation
disease
CLINVAR
Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.
16971478
2007
×
Entrez Id:
3914
Gene Symbol:
LAMB3
LAMB3
0.920
CausalMutation
disease
CLINVAR
Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.
16473856
2006
×
Entrez Id:
3914
Gene Symbol:
LAMB3
LAMB3
0.920
GeneticVariation
disease
CLINVAR
Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.
16473856
2006
×
Entrez Id:
3914
Gene Symbol:
LAMB3
LAMB3
0.920
CausalMutation
disease
CLINVAR
Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz disease.
15538630
2005
×
Entrez Id:
3914
Gene Symbol:
LAMB3
LAMB3
0.920
GeneticVariation
disease
CLINVAR
Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz disease.
15538630
2005
×
Entrez Id:
3914
Gene Symbol:
LAMB3
LAMB3
0.920
GeneticVariation
disease
CLINVAR
Prenatal diagnosis of Herlitz junctional epidermolysis bullosa in nonidentical twins.
15725250
2005
×
Entrez Id:
3914
Gene Symbol:
LAMB3
LAMB3
0.920
CausalMutation
disease
CLINVAR
Laminin-5 mutational analysis in an Italian cohort of patients with junctional epidermolysis bullosa.
15373767
2004
×
Entrez Id:
3914
Gene Symbol:
LAMB3
LAMB3
0.920
GeneticVariation
disease
CLINVAR
Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.
12813757
2003
×
Entrez Id:
3914
Gene Symbol:
LAMB3
LAMB3
0.920
CausalMutation
disease
CLINVAR
Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.
12813757
2003
×
Entrez Id:
3914
Gene Symbol:
LAMB3
LAMB3
0.920
GeneticVariation
disease
CLINVAR
Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes.
11810295
2002