Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes.
about
Laminin 332 in junctional epidermolysis bullosaConserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary SignalingBilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease.Collagens and collagen-related diseases.Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta.Multiple hits during early embryonic development: digenic diseases and holoprosencephalyThe molecular genetics of the genodermatoses: progress to date and future directions.Type XVII collagen gene mutations in junctional epidermolysis bullosa and prospects for gene therapy.Molecular identification of collagen 17a1 as a major genetic modifier of laminin gamma 2 mutation-induced junctional epidermolysis bullosa in mice.The shed ectodomain of collagen XVII/BP180 is targeted by autoantibodies in different blistering skin diseases.A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvementThe prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome.Physiological and pathological implications of laminins: from the gene to the protein.Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.Digenic inheritance in medical geneticsWhere genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Back to basics--how the evolution of the extracellular matrix underpinned vertebrate evolution.Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome.Solexa-Sequencing Based Transcriptome Study of Plaice Skin Phenotype in Rex Rabbits (Oryctolagus cuniculus).Amelogenesis Imperfecta: 1 Family, 2 Phenotypes, and 2 Mutated Genes.Understanding mutational effects in digenic diseasesType XVII collagen is a key player in tooth enamel formation.Exclusion of the human collagen type XVII (COL17A1) gene as the cause of Thiel-Behnke corneal dystrophy (CDB2) on chromosome 10q23-q25.Junctional epidermolysis bullosa gravis (Herlitz): diagnostic and genetic aspects.Evidence for digenic inheritance in a family with both febrile convulsions and temporal lobe epilepsy implicating chromosomes 18qter and 1q25-q31.A truncating mutation in the laminin-332α chain highlights the role of the LG45 proteolytic domain in regulating keratinocyte adhesion and migration.
P2860
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P2860
Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes.
description
1999 nî lūn-bûn
@nan
1999 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes
@nl
Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes.
@ast
Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes.
@en
Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes.
@en-gb
type
label
Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes
@nl
Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes.
@ast
Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes.
@en
Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes.
@en-gb
prefLabel
Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes
@nl
Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes.
@ast
Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes.
@en
Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes.
@en-gb
P2860
P356
P1476
Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes.
@en
P2093
L Bruckner-Tuderman
P2860
P304
P356
10.1086/302672
P407
P577
1999-12-01T00:00:00Z