A novel deletion and two recurrent substitutions on type VII collagen gene in seven Iranian patients with epidermolysis bullosa.

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A novel deletion and two recurrent substitutions on type VII collagen gene in seven Iranian patients with epidermolysis bullosa.

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2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年論文

@yue

2016年論文

@zh-hant

2016年論文

@zh-hk

2016年論文

@zh-mo

2016年論文

@zh-tw

2016年论文

@wuu

2016年论文

@zh

2016年论文

@zh-cn

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A novel deletion and two recur ...... ts with epidermolysis bullosa.

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label

A novel deletion and two recur ...... ts with epidermolysis bullosa.

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prefLabel

A novel deletion and two recur ...... ts with epidermolysis bullosa.

@en

P1476

A novel deletion and two recur ...... ts with epidermolysis bullosa.

@en

P2093

Ahmad Ebrahimi

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Armita Kakavand Hamidi

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Mohammad Moghaddam

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Nasim Hatamnejadian

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P2860

Inherited epidermolysis bullosa

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

Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa

Two novel mutations on exon 8 and intron 65 of COL7A1 gene in two Chinese brothers result in recessive dystrophic epidermolysis bullosa

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

Generalized dystrophic epidermolysis bullosa: identification of a novel, homozygous glycine substitution, G2031S, in exon 73 of COL7A1 in monozygous triplets.

A novel COL7A1 gene mutation in an Iranian individual suffering dystrophic epidermolysis bullosa

Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification.

Type VII collagen: the anchoring fibril protein at fault in dystrophic epidermolysis bullosa.

A novel COL7A1 mutation in a Korean patient with Hallopeau-Siemens recessive dystrophic epidermolysis bullosa.

P304

858-862

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scholarly article

P433

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P478

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P577

2016-08-01T00:00:00Z

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P698

27746867

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P932

5048121

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