Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa (Q28243912)

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T Airenne

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H Haakana

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K Tryggvason

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J Uitto

Biochemical Mechanisms of Constitutive and Regulated Pre-mRNA Splicing

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language of work or name

English

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publication date

March 1994

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293-7

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Nonsense mutations in the dihydrofolate reductase gene affect RNA processing

21 January 2018

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Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry

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Molecular genetics of epidermolysis bullosa

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Molecular genetics of the cutaneous basement membrane zone. Perspectives on epidermolysis bullosa and other blistering skin diseases

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Epidermolysis Bullosa Simplex: Evidence in Two Families for Keratin Gene Abnormalities

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7 January 2021

Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analyses

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A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex.

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A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex.

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7 January 2021

Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Köbner type of epidermolysis bullosa simplex

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7 January 2021

A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering

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Of mice and men: genetic skin diseases of keratin

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Genetic linkage of type VII collagen (COL7A1) to dominant dystrophic epidermolysis bullosa in families with abnormal anchoring fibrils

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7 January 2021

Linkage of autosomal dominant dystrophic epidermolysis bullosa in three British families to the marker D3S2 close to the COL7A1 locus

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7 January 2021

Genetic Linkage Between the Collagen VII (COL7A1) Gene and the Autosomal Dominant Form of Dystrophic Epidermolysis Bullosa in Two Dutch Kindreds

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7 January 2021

A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa

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7 January 2021

The new basement membrane antigen recognized by the monoclonal antibody GB3 is a large size glycoprotein: modulation of its expression by retinoic acid

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7 January 2021

Kalinin: an epithelium-specific basement membrane adhesion molecule that is a component of anchoring filaments

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7 January 2021

Epiligrin, a new cell adhesion ligand for integrin alpha 3 beta 1 in epithelial basement membranes

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7 January 2021

A new nomenclature for the laminins

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7 January 2021

Normal and abnormal aspects of proteinuria. Part I: Mechanisms, characteristics and analyses of urinary protein. Part II: Clinical considerations

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7 January 2021

A truncated laminin chain homologous to the B2 chain: structure, spatial expression, and chromosomal assignment

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7 January 2021

The dermal-epidermal junction of human skin contains a novel laminin variant

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7 January 2021

Kalinin is abnormally expressed in epithelial basement membranes of Herlitz's junctional epidermolysis bullosa patients

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7 January 2021

DNA sequencing with chain-terminating inhibitors

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Nonsense mutations and diminished mRNA levels

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7 January 2021

The skipping of constitutive exons in vivo induced by nonsense mutations

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7 January 2021

Differential expression of type IV procollagen and laminin genes by fetal vs adult skin fibroblasts in culture: determination of subunit mRNA steady-state levels

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7 January 2021

Type VII collagen gene expression by human skin fibroblasts and keratinocytes in culture: influence of donor age and cytokine responses

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7 January 2021

Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs

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7 January 2021