(Q30501423)
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A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness (English)
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M J Kovach
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J P Lin
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S Boyadjiev
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K Campbell
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L Mazzeo
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K Herman
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L A Rimer
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W Frank
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B Llewellyn
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D Gelber
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V E Kimonis
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