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Article

A novel mutation in the COL7A1 gene results in a unique phenotype of epidermolysis bullosa pruriginosa.

Journal of the European Academy of Dermatology and Venereology : JEADV - 1 Mar 2016

Ni C, Zhang J, Zhang H, Cheng R-H, Liang J-Y, Li C-X, Li M, Yao Z-R

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 25556825
DOI: 10.1111/jdv.12933

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A novel mutation in the COL7A1 gene results in a unique phenotype of epidermolysis bullosa pruriginosa.PMID 25556825Read ↗

Epidermolysis bullosa pruriginosa: two novel mutations (A2054V and G2233R) in the COL7A1 gene.Semantic proximity Read ↗

A case of dystrophic epidermolysis bullosa with a rare COL7A1 variant.Semantic proximity Read ↗

A case of intermediate recessive dystrophic epidermolysis bullosa with a novel COL7A1 mutation.Semantic proximity Read ↗

Novel missense mutation of COL7A1 in a recessive dystrophic epidermolysis bullosa patient with mild clinical phenotype.Semantic proximity Read ↗

Dominant dystrophic epidermolysis bullosa pruriginosa with a COL7A1 exon 87 c.6898C>T mutation.Semantic proximity Read ↗

Two sisters with recessive dystrophic epidermolysis bullosa caused by novel variants in COL7A1.Semantic proximity Read ↗

Bullous dermolysis of the newborn and dystrophic epidermolysis bullosa pruriginosa within the same family: two phenotypes associated with a COL7A1 mutation.Semantic proximity Read ↗

Case report of two siblings with a novel homozygous mutation in COL7A1 leads to recessive dystrophic epidermolysis bullosa: which type?Semantic proximity Read ↗

Localised Dominant Dystrophic Epidermolysis Bullosa with a Novel de Novo Mutation in COL7A1 Diagnosed by Next-generation Sequencing.Semantic proximity Read ↗

Recessive dystrophic epidermolysis bullosa: identification of a novel COL7A1 mutation of D44N.Semantic proximity Read ↗

Novel COL7A1 mutation in a family with bullous dermolysis of the newborn: Phenotypic variability associated with a COL7A1 mutation within the same family.Semantic proximity Read ↗

Epidermolysis bullosa (EB) pruriginosa associated with recessive homozygous mutations in COL7A1: case report of a rare EB genotype-phenotype.Semantic proximity Read ↗

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