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2001
Mark The mutational spectrum of human malignant autosomal recessive osteopetrosis
Sobacchi, C ; Frattini, A ; Orchard, P ; Porras, O ; Tezcan, I ; Andolina, M ; Babul-Hirji, R ; Baric, I ; Canham, N and Chitayat, D , et al. (2001) In Human Molecular Genetics 10(17). p.1767-1773
- Contribution to journal › Article
2000
Mark Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib)
Schollen, E. ; Dorland, L. ; De Koning, T. J. ^LU ; Van Diggelen, O. P. ; Huijmans, J. G.M. ; Marquardt, T. ; Babovic-Vuksanovic, D. ; Patterson, M. ; Imtiaz, F. and Winchester, B. , et al. (2000) In Human Mutation 16(3). p.247-252
- Contribution to journal › Article
Mark Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation : An updated nomenclature for CDG
Aebi, M. ; Helenius, A. ; Schenk, B. ; Barone, R. ; Fiumara, A. ; Berger, E. G. ; Hennet, T. ; Imbach, T. ; Stutz, A. ^LU and Bjursell, C. , et al. (2000) In Glycobiology 16. p.669-671
- Contribution to journal › Letter
1999
Mark Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation : An updated nomenclature for CDG
Aebi, M. ; Helenius, A. ; Schenk, B. ; Barone, R. ; Fiumara, A. ; Berger, E. G. ; Hennet, T. ; Imbach, T. ; Stutz, A. and Bjursell, C. , et al. (1999) In Glycoconjugate Journal 16(11). p.669-671
- Contribution to journal › Letter
1995
Mark Factor VIII gene inversions in severe hemophilia A : Results of an international consortium study
Antonarakis, S. E. ; Rossiter, J. P. ; Young, M. ; Horst, J. ; De Moerloose, P. ; Sommer, S. S. ; Ketterling, R. P. ; Kazazian, H. H. ; Négrier, C. and Vinciguerra, C. , et al. (1995) In Blood 86(6). p.2206-2212
- Contribution to journal › Article