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 Genetics•Publisher: Springer Science and Business Media LLC
Authors: Els Pardon•Els Schollen•Emile Van Schaftingen•Gert Matthijs•Jaak Jaeken•Jean-Jacques Cassiman•Maria Veiga-Da-Cunha