(Q24318956)

English

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

scientific article

Statements

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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88-92
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1
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