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Publications by J. Des Parkin
Mapping Structural Landmarks, Ligand Binding Sites, and Missense Mutations to the Collagen IV Heterotrimers Predicts Major Functional Domains, Novel Interactions, and Variation in Phenotypes in Inherited Diseases Affecting Basement Membranes
Human Mutation
Genetics
Related publications
Collagen IV Diseases: A Focus on the Glomerular Basement Membrane in Alport Syndrome
Matrix Biology
Molecular Biology
Basement Membranes and Autoimmune Diseases
Matrix Biology
Molecular Biology
De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen Α2 Chain Cause Porencephaly
American Journal of Human Genetics
Genetics
The Distributions of Type IV Collagen Α Chains in Basement Membranes of Human Epidermis and Skin Appendages
Archives of Histology and Cytology
Histology
Metabolic, Structural and Functional Alterations in Patients With Inherited Diseases of the Retina
Acta Ophthalmologica
Medicine
Ophthalmology
Laminin and Type IV Collagen Isoform Substitutions Occur in Temporally and Spatially Distinct Patterns in Developing Kidney Glomerular Basement Membranes
Journal of Histochemistry and Cytochemistry
Anatomy
Histology
Mapping Ligand Binding Domains in Chimeric Fibroblast Growth Factor Receptor Molecules
Journal of Biological Chemistry
Biochemistry
Cell Biology
Molecular Biology
Caveolin-3 T78M and T78K Missense Mutations Lead to Different Phenotypes in Vivo and in Vitro
Laboratory Investigation
Forensic Medicine
Pathology
Cell Biology
Molecular Biology
MERTK Mutations Update in Inherited Retinal Diseases
Human Mutation
Genetics
