Transient bullous dermolysis of the newborn: a novel de novo mutation in the COL7A1 gene.

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Intraepidermal Type VII Collagen by Immunofluorescence Mapping: A Specific Finding for Bullous Dermolysis of the Newborn.

P2860

Q39317520-52FE0F96-7308-4B52-BB56-C6D5668ED715

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Transient bullous dermolysis of the newborn: a novel de novo mutation in the COL7A1 gene.

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Transient bullous dermolysis of the newborn: a novel de novo mutation in the COL7A1 gene.

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Transient bullous dermolysis of the newborn: a novel de novo mutation in the COL7A1 gene.

@en

prefLabel

Transient bullous dermolysis of the newborn: a novel de novo mutation in the COL7A1 gene.

@en

P1476

Transient bullous dermolysis of the newborn: a novel de novo mutation in the COL7A1 gene.

@en

P2093

Bing-Jun Shi

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Guo-Fu Yan

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Jin Hao

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Qing-Chun Diao

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Su-Ping Wang

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Xiao-Juan Zhu

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Xiu-Yong Wang

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Yi Liu

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P2860

Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (COL7A1)

Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes

Structural organization of the human type VII collagen gene (COL7A1), composed of more exons than any previously characterized gene

Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa

Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations.

Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.

Transient bullous dermolysis of the newborn in three generations.

Transient bullous dermolysis of the newborn.

A novel missense mutation in the COL7A1 gene causes epidermolysis bullosa pruriginosa.

Does the position of the premature termination codon in COL7A1 correlate with the clinical severity in recessive dystrophic epidermolysis bullosa?

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438-442

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scholarly article

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10.1111/IJD.12704

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P478

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2015-04-01T00:00:00Z

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25800346

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P921

transient bullous dermolysis of the newborn

Transient bullous dermolysis of the newborn: a novel de novo mutation in the COL7A1 gene.

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P2860

P2860

Transient bullous dermolysis of the newborn: a novel de novo mutation in the COL7A1 gene.

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P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698

P921

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698

P921