Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type 1b (CDG-1b)

E Schollen; L Dorland; TJ de Koning; Otto Diggelen; Jan Huijmans; T Marquardt; D Babovic-Vuksanovic; MC 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 1b (CDG-1b)

E Schollen, L Dorland, TJ de Koning, Otto Diggelen, Jan Huijmans, T Marquardt, D Babovic-Vuksanovic, MC Patterson, F Imtiaz, B Winchester, M Adamowicz, E Pronicka, H Freeze, G Matthijs

Clinical Genetics

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

39 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	247-252
Number of pages	6
Journal	Human Mutation
Volume	16
Publication status	Published - 2000

Research programs

EMC MGC-02-96-01

Cite this

Schollen, E., Dorland, L., de Koning, TJ., Diggelen, O., Huijmans, J., Marquardt, T., Babovic-Vuksanovic, D., Patterson, MC., 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 1b (CDG-1b). 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 1b (CDG-1b)",

author = "E Schollen and L Dorland and {de Koning}, TJ and Otto Diggelen and Jan Huijmans and T Marquardt and D Babovic-Vuksanovic and MC 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",

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Schollen, E, Dorland, L, de Koning, TJ, Diggelen, O, Huijmans, J, Marquardt, T, Babovic-Vuksanovic, D, Patterson, MC, 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 1b (CDG-1b)', 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 1b (CDG-1b)

AU - Schollen, E

AU - Dorland, L

AU - de Koning, TJ

AU - Diggelen, Otto

AU - Huijmans, Jan

AU - Marquardt, T

AU - Babovic-Vuksanovic, D

AU - Patterson, MC

AU - Imtiaz, F

AU - Winchester, B

AU - Adamowicz, M

AU - Pronicka, E

AU - Freeze, H

AU - Matthijs, G

PY - 2000

Y1 - 2000

M3 - Article

SN - 1059-7794

VL - 16

SP - 247

EP - 252

JO - Human Mutation

JF - Human Mutation

ER -