Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosa (Q24676917)

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Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosa
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    Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosa (English)
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    H Schumann
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    N Hammami-Hauasli
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    L Pulkkinen
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    A Mauviel
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    W Küster
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    U Lüthi
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    K Owaribe
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    J Uitto
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    L Bruckner-Tuderman
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    June 1997
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    60
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    6
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    1344-53
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