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Jbc de Klerk
Jbc de Klerk
Genetics
Biology
Molecular biology
Mutation testing
Phosphomannose Isomerase
3
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75
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Characterization of a novel mitochondrial DNA deletion in a patient with a variant of the Pearson marrow-pancreas syndrome.
2000
European Journal of Human Genetics
Jmw van den Ouweland
Jbc de Klerk
Mp van de Corput
Roeland W. Dirks
A. K. Raap
H. R. Scholte
Jgm Huijmans
Leen M. ‘t Hart
Gj Bruining
J. A. Maassen
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Citations (34)
Genomic organisation of the human phosphomannose-isomerase (PMI) gene and mutation analysis in patients with the carbohydrate-deficient glycoprotein syndrome type 1b (CDGS1b)
1999
American Journal of Human Genetics
Els Schollen
L. Dorland
Jbc de Klerk
O. P. van Diggelen
Gert Matthijs
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The success of dietary protein restriction in alkaptonuria patients is age-dependent
1998
Journal of Inherited Metabolic Disease
[No Value] de Haas
Ecc Weber
Jbc de Klerk
H. D. Bakker
Gpa Smit
War Huijbers
M. Duran
B. T. Poll-The
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Citations (41)
1