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Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13 in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)
Published Online: 1997-05-01
Journal: Nature GeneticsLoading...
Authors: Els PardonEls SchollenEmile Van SchaftingenGert MatthijsJaak JaekenJean-Jacques CassimanMaria Veiga-Da-Cunha
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1997-07-01Correction
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10.1038/ng0797-316
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1997-05-01Published