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Publications by Marc Fransen
Functional Characterization of Two Missense Mutations in Pex5p—C11S and N526K
Biochimica et Biophysica Acta - Molecular Cell Research
Cell Biology
Molecular Biology
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Functional Consequences of PRODH Missense Mutations
American Journal of Human Genetics
Genetics
Functional Characterization of Bestrophin-1 Missense Mutations Associated With Autosomal Recessive Bestrophinopathy
Investigative Ophthalmology and Visual Science
Molecular Neuroscience
Ophthalmology
Sensory Systems
Cellular
Missense Mutations of MADH4: Characterization of the Mutational Hot Spot and Functional Consequences in Human Tumors
Clinical Cancer Research
Cancer Research
Oncology
Development of Functional Assays for BRCA1 Missense Mutations
Breast Cancer Research
Cancer Research
Oncology
Functional Consequences of Tumorigenic Missense Mutations in the Amino-Terminal Domain of Smad4
Oncogene
Cancer Research
Genetics
Molecular Biology
Missense Mutations in DYT-TOR1A Dystonia
Neurology: Genetics
Neurology
Genetics
Two Missense Mutations in KCNQ1 Cause Pituitary Hormone Deficiency and Maternally Inherited Gingival Fibromatosis
Nature Communications
Astronomy
Genetics
Molecular Biology
Biochemistry
Chemistry
Physics
Molecular Characterization of Mutations in Galactosemia Genes: Structural and Functional Implications
Molecular Cytogenetics
Biochemistry
Molecular Medicine
Genetics
Molecular Biology
Identification and Functional Analysis of Missense Mutations in the Lecithin Cholesterol Acyltransferase Gene in a Chilean Patient With Hypoalphalipoproteinemia
Lipids in Health and Disease
Biochemistry
Endocrinology
Clinical Biochemistry
Metabolism
Diabetes