Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa
about
Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes.Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosaA recurrent laminin 5 mutation in British patients with lethal (Herlitz) junctional epidermolysis bullosa: evidence for a mutational hotspot rather than propagation of an ancestral alleleE210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosalaminin alpha 1 gene is essential for normal lens development in zebrafish.Defining the role of laminin-332 in carcinoma.Laminins and human disease.Herlitz junctional epidermolysis bullosa presenting at birth with anonychia: a case report and review of H-JEB.Multiple hits during early embryonic development: digenic diseases and holoprosencephalyMaternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosaIn vivo restoration of laminin 5 beta 3 expression and function in junctional epidermolysis bullosa.Targeted disruption of the LAMA3 gene in mice reveals abnormalities in survival and late stage differentiation of epithelial cells.Extent of laminin-5 assembly and secretion effect junctional epidermolysis bullosa phenotype.Detection of novel LAMC2 mutations in Herlitz junctional epidermolysis BullosaA targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvementEpidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.Do cell junction protein mutations cause an airway phenotype in mice or humans?Kidney development and perspectives for organ engineering.Amelogenesis Imperfecta; Genes, Proteins, and Pathways.Herlitz junctional epidermolysis bullosa with a novel mutation in LAMB3.Quantitative analysis of laminin 5 gene expression in human keratinocytes.Herlitz junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands.Laminins: Roles and Utility in Wound Repair.Prognostic implications of determining 180 kDa bullous pemphigoid antigen (BPAG2) gene/protein pathology in neonatal junctional epidermolysis bullosa.A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosa.
P2860
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P2860
Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa
description
1996 nî lūn-bûn
@nan
1996 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年学术文章
@wuu
1996年学术文章
@zh-cn
1996年学术文章
@zh-hans
1996年学术文章
@zh-my
1996年学术文章
@zh-sg
1996年學術文章
@yue
name
Mutational hotspots in the LAM ...... nctional epidermolysis bullosa
@ast
Mutational hotspots in the LAM ...... nctional epidermolysis bullosa
@en
Mutational hotspots in the LAM ...... nctional epidermolysis bullosa
@nl
type
label
Mutational hotspots in the LAM ...... nctional epidermolysis bullosa
@ast
Mutational hotspots in the LAM ...... nctional epidermolysis bullosa
@en
Mutational hotspots in the LAM ...... nctional epidermolysis bullosa
@nl
prefLabel
Mutational hotspots in the LAM ...... nctional epidermolysis bullosa
@ast
Mutational hotspots in the LAM ...... nctional epidermolysis bullosa
@en
Mutational hotspots in the LAM ...... nctional epidermolysis bullosa
@nl
P2093
P356
P1476
Mutational hotspots in the LAM ...... nctional epidermolysis bullosa
@en
P2093
A M Christiano
J A McGrath
L Pulkkinen
S Kivirikko
P356
10.1093/HMG/5.2.231
P407
P577
1996-02-01T00:00:00Z