Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome) (Q24318956)

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Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)
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    Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome) (English)
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    G Matthijs
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    E Schollen
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    E Pardon
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    M Veiga-Da-Cunha
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    J Jaeken
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    J J Cassiman
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    E Van Schaftingen
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    May 1997
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    16
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    1
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    88-92
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