Identical COL71A1 heterozygous mutations resulting in different dystrophic epidermolysis bullosa phenotypes.

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Identical COL71A1 heterozygous mutations resulting in different dystrophic epidermolysis bullosa phenotypes.

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2017 nî lūn-bûn

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2017年学术文章

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Identical COL71A1 heterozygous ...... dermolysis bullosa phenotypes.

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Identical COL71A1 heterozygous ...... dermolysis bullosa phenotypes.

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Identical COL71A1 heterozygous ...... dermolysis bullosa phenotypes.

@en

Identical COL71A1 heterozygous ...... dermolysis bullosa phenotypes.

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Identical COL71A1 heterozygous ...... dermolysis bullosa phenotypes.

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Identical COL71A1 heterozygous ...... dermolysis bullosa phenotypes.

@nl

P1476

Identical COL71A1 heterozygous ...... idermolysis bullosa phenotypes

@en

P2093

Adela García-Martin

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Angela Hernández-Martin

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Lucero Noguera-Morel

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Marta García

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Raúl de Lucas

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Rocío Maseda Pedrero

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Ángeles Mencía

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P2860

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

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

Clinical and molecular dilemmas in the diagnosis of familial epidermolysis bullosa pruriginosa.

An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa phenotypes in an extended kindred

A novel de novo splice-site mutation in the COL7A1 gene in dominant dystrophic epidermolysis bullosa (DDEB): specific exon skipping could be a prognostic factor for DDEB pruriginosa.

Epidermolysis bullosa pruriginosa: a systematic review exploring genotype-phenotype correlation.

Epidermolysis Bullosa Pruriginosa: Case Series and Review of the Literature.

Intracellular expression of type VII collagen during wound healing in severe recessive dystrophic epidermolysis bullosa and normal human skin.

New glycine substitution mutations in type VII collagen underlying epidermolysis bullosa pruriginosa but the phenotype is not explained by a common polymorphism in the matrix metalloproteinase-1 gene promoter.

Epidermolysis Bullosa Pruriginosa Excoriée: A Deceptive Pruritic Variant in Two Female Patients.

P304

e94-e98

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P31

scholarly article

P356

10.1111/PDE.13367

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P433

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P478

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P50

María José Escámez

N Knöpfel

Antonio Torrelo

P577

2017-12-22T00:00:00Z

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P698

29272047

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