Dilemmas in distinguishing between dominant and recessive forms of dystrophic epidermolysis bullosa.

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2003 nî lūn-bûn

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2003年の論文

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2003年学术文章

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2003年学术文章

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2003年学术文章

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2003年学术文章

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name

Dilemmas in distinguishing bet ...... trophic epidermolysis bullosa.

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Dilemmas in distinguishing bet ...... trophic epidermolysis bullosa.

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Dilemmas in distinguishing bet ...... trophic epidermolysis bullosa.

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Dilemmas in distinguishing bet ...... trophic epidermolysis bullosa.

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Dilemmas in distinguishing bet ...... trophic epidermolysis bullosa.

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Dilemmas in distinguishing bet ...... trophic epidermolysis bullosa.

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P1476

Dilemmas in distinguishing bet ...... trophic epidermolysis bullosa.

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P2093

Ashton GH

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Bleck O

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Eady RA

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Mallipeddi R

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McGrath JA

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Mellerio JE

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P2860

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

Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in dystrophic epidermolysis bullosa

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

Some, but not all, glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII, loss of anchoring fibrils, and skin blistering.

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

The recombinant expression of full-length type VII collagen and characterization of molecular mechanisms underlying dystrophic epidermolysis bullosa.

Epidermolysis bullosa: a spectrum of clinical phenotypes explained by molecular heterogeneity.

Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene.

Three cases of de novo dominant dystrophic epidermolysis bullosa associated with the mutation G2043R in COL7A1.

A Japanese case of de novo dominant dystrophic epidermolysis bullosa.

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810-818

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scholarly article

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10.1046/J.1365-2133.2003.05315.X

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English

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149

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P577

2003-10-01T00:00:00Z

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14616374

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