Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type lb (CDG-lb).

E. Schollen; L. Dorland; T.J. de Koning; O.P. van Diggelen; J.G.M. Huijmans; T. Marquardt; D. Babovic-Vucsanovic; M. Patterson; F. Imtiaz; B. Winchester; M. Adamowicz; E. Pronicka; H. Freeze; G. Matthijs

Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type lb (CDG-lb).

Translated title of the contribution: Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type lb (CDG-lb).

E. Schollen, L. Dorland, T.J. de Koning, O.P. van Diggelen, J.G.M. Huijmans, T. Marquardt, D. Babovic-Vucsanovic, M. Patterson, F. Imtiaz, B. Winchester, M. Adamowicz, E. Pronicka, H. Freeze, G. Matthijs

Metabolic diseases

Research output: Contribution to journal › Article › Academic › peer-review

Translated title of the contribution	Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type lb (CDG-lb).
Original language	Undefined/Unknown
Pages (from-to)	247-252
Number of pages	6
Journal	Human Mutation
Volume	16
Publication status	Published - 2000

Keywords

Econometric and Statistical Methods: General
Geneeskunde (GENK)
Genetics
Geneeskunde(GENK)
Algemeen onderzoek

Cite this

Schollen, E., Dorland, L., de Koning, T. J., van Diggelen, O. P., Huijmans, J. G. M., Marquardt, T., Babovic-Vucsanovic, D., Patterson, M., Imtiaz, F., Winchester, B., Adamowicz, M., Pronicka, E., Freeze, H., & Matthijs, G. (2000). Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type lb (CDG-lb). Human Mutation, 16, 247-252.

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title = "Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type lb (CDG-lb).",

keywords = "Econometric and Statistical Methods: General, Geneeskunde (GENK), Genetics, Geneeskunde(GENK), Algemeen onderzoek",

author = "E. Schollen and L. Dorland and \{de Koning\}, T.J. and \{van Diggelen\}, O.P. and J.G.M. Huijmans and T. Marquardt and D. Babovic-Vucsanovic and M. Patterson and F. Imtiaz and B. Winchester and M. Adamowicz and E. Pronicka and H. Freeze and G. Matthijs",

year = "2000",

language = "Undefined/Unknown",

volume = "16",

pages = "247--252",

journal = "Human Mutation",

issn = "1059-7794",

publisher = "John Wiley \& Sons Inc.",

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Schollen, E, Dorland, L, de Koning, TJ, van Diggelen, OP, Huijmans, JGM, Marquardt, T, Babovic-Vucsanovic, D, Patterson, M, Imtiaz, F, Winchester, B, Adamowicz, M, Pronicka, E, Freeze, H & Matthijs, G 2000, 'Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type lb (CDG-lb).', Human Mutation, vol. 16, pp. 247-252.

TY - JOUR

T1 - Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type lb (CDG-lb).

AU - Schollen, E.

AU - Dorland, L.

AU - de Koning, T.J.

AU - van Diggelen, O.P.

AU - Huijmans, J.G.M.

AU - Marquardt, T.

AU - Babovic-Vucsanovic, D.

AU - Patterson, M.

AU - Imtiaz, F.

AU - Winchester, B.

AU - Adamowicz, M.

AU - Pronicka, E.

AU - Freeze, H.

AU - Matthijs, G.

PY - 2000

Y1 - 2000

KW - Econometric and Statistical Methods: General

KW - Geneeskunde (GENK)

KW - Genetics

KW - Geneeskunde(GENK)

KW - Algemeen onderzoek

M3 - Article

SN - 1059-7794

VL - 16

SP - 247

EP - 252

JO - Human Mutation

JF - Human Mutation

ER -