Matthijs G, Schollen E, Pardon E, Veiga-Da-Cunha M, Jaeken J, Cassiman JJ, Van Schaftingen E, Mutations in PMMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome) [published erratum appears in Nat Genet 1997 Jul;16(3):316] Nat Genet16:88-92 1997 |