A unique LAMB3 splice-site mutation with founder effect from the Balkans causes lethal epidermolysis bullosa in several European countries.

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Raising Awareness Among Healthcare Providers about Epidermolysis Bullosa and Advancing Toward a Cure.Advances in understanding the molecular basis of skin fragility.

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A unique LAMB3 splice-site mutation with founder effect from the Balkans causes lethal epidermolysis bullosa in several European countries.

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A unique LAMB3 splice-site mut ...... in several European countries.

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A unique LAMB3 splice-site mut ...... in several European countries.

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A unique LAMB3 splice-site mut ...... in several European countries.

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P1476

A unique LAMB3 splice-site mut ...... in several European countries.

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A Charlesworth

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B Mayer

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D Castiglia

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D Pintér

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F Petit

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H Pamjav

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M Mazán

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P Silló

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Zs Hatvani

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Cloning of the beta 3 chain gene (LAMB3) of human laminin 5, a candidate gene in junctional epidermolysis bullosa

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The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers.

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The Icelandic founder mutation BRCA2 999del5: analysis of expression

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Median-joining networks for inferring intraspecific phylogenies

Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy

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scholarly article

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10.1111/BJD.14646

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English

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175

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Sarolta Kárpáti

M Medvecz

Cristina Has

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2016-04-07T00:00:00Z

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27062385

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A unique LAMB3 splice-site mutation with founder effect from the Balkans causes lethal epidermolysis bullosa in several European countries.

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P2860

P2860

A unique LAMB3 splice-site mutation with founder effect from the Balkans causes lethal epidermolysis bullosa in several European countries.

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P1476

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P698