The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis (Q28213469)

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scientific article (publication date: August 2001)
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The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis
scientific article (publication date: August 2001)

    Statements

    The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis (English)
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    E Sprecher
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    S Chavanas
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    J J DiGiovanna
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    S Amin
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    K Nielsen
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    J S Prendiville
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    R Silverman
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    N B Esterly
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    M K Spraker
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    E Guelig
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    M L de Luna
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    M L Williams
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    B Buehler
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    E C Siegfried
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    L Van Maldergem
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    E Pfendner
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    S J Bale
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    J Uitto
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    G Richard
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    August 2001
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    117
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    179-87
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    2
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