A COL7A1 mutation causes dystrophic epidermolysis bullosa in Rotes Höhenvieh cattle. - Wikidata - awgldk - TriplyDB

A COL7A1 mutation causes dystrophic epidermolysis bullosa in Rotes Höhenvieh cattle.

A COL7A1 mutation causes dystrophic epidermolysis bullosa in Rotes Höhenvieh cattle.

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Streptococcus pneumoniae Cell-Wall-Localized Phosphoenolpyruvate Protein Phosphotransferase Can Function as an Adhesin: Identification of Its Host Target Molecules and Evaluation of Its Potential as a Vaccine A SNP in intron 8 of CD46 causes a novel transcript associated with mastitis in Holsteins Rat model for dominant dystrophic epidermolysis bullosa: glycine substitution reduces collagen VII stability and shows gene-dosage effect Epidermolysis bullosa in Danish Hereford calves is caused by a deletion in LAMC2 gene DNA-based diagnosis of rare diseases in veterinary medicine: a 4.4 kb deletion of ITGB4 is associated with epidermolysis bullosa in Charolais cattle.A nonsense mutation in the COL7A1 gene causes epidermolysis bullosa in Vorderwald cattle Epidermolysis bullosa in animals: a review.A genomic variant in IRF9 is associated with serum cytokine levels in pig.Congenital dystrophic epidermolysis bullosa (DEB) in Sprague Dawley rats: a case series.Identification and annotation of breed-specific single nucleotide polymorphisms in Bos taurus genomes.

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A COL7A1 mutation causes dystrophic epidermolysis bullosa in Rotes Höhenvieh cattle.

http://www.wikidata.org/entity/Q34310389

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2012 nî lūn-bûn

@nan

2012 թուականի Յունիսին հրատարակուած գիտական յօդուած

@hyw

2012 թվականի հունիսին հրատարակված գիտական հոդված

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2012年の論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年论文

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A COL7A1 mutation causes dystrophic epidermolysis bullosa in Rotes Höhenvieh cattle.

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A COL7A1 mutation causes dystrophic epidermolysis bullosa in Rotes Höhenvieh cattle.

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A COL7A1 mutation causes dystrophic epidermolysis bullosa in Rotes Höhenvieh cattle.

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A COL7A1 mutation causes dystrophic epidermolysis bullosa in Rotes Höhenvieh cattle.

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A COL7A1 mutation causes dystrophic epidermolysis bullosa in Rotes Höhenvieh cattle.

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A COL7A1 mutation causes dystrophic epidermolysis bullosa in Rotes Höhenvieh cattle.

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A COL7A1 mutation causes dystrophic epidermolysis bullosa in Rotes Höhenvieh cattle.

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A COL7A1 mutation causes dystrophic epidermolysis bullosa in Rotes Höhenvieh cattle.

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A COL7A1 mutation causes dystrophic epidermolysis bullosa in Rotes Höhenvieh cattle.

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A COL7A1 mutation causes dystrophic epidermolysis bullosa in Rotes Höhenvieh cattle

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Annie Menoud

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Monika Welle

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Peter Lichtner

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P2860

Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa

A frameshift mutation within LAMC2 is responsible for Herlitz type junctional epidermolysis bullosa (HJEB) in black headed mutton sheep

An unusual splice defect in the mitofusin 2 gene (MFN2) is associated with degenerative axonopathy in Tyrolean Grey cattle

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

The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB

Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa.

Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa.

Recurrent nonsense mutations within the type VII collagen gene in patients with severe recessive dystrophic epidermolysis bullosa.

Epidermolysis bullosa: the expanding mutation database.

A hypomorphic mouse model of dystrophic epidermolysis bullosa reveals mechanisms of disease and response to fibroblast therapy.

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