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Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13 in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)
Matthijs, Gert, Schollen, Els, Pardon, Els, Veiga-Da-Cunha, Maria, Jaeken, Jaak, Cassiman, Jean-Jacques, Schaftingen, Emile VanVolume:
16
Year:
1997
Pages:
5
DOI:
10.1038/ng0597-88
File:
PDF, 794 KB
1997