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Bleyer, Anthony
One or more keywords matched the following items that are connected to
Bleyer, Anthony
Item Type
Name
Academic Article
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.
Concept
Mucin-1
Academic Article
Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1.
Academic Article
Autosomal dominant tubulointerstitial kidney disease: of names and genes.
Academic Article
Development and Validation of a Mass Spectrometry-Based Assay for the Molecular Diagnosis of Mucin-1 Kidney Disease.
Academic Article
Autosomal Dominant Tubulointerstitial Kidney Disease.
Academic Article
Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease.
Academic Article
Autosomal Dominant Tubulointerstitial Kidney Disease Due to MUC1 Mutation.
Academic Article
Small Molecule Targets TMED9 and Promotes Lysosomal Degradation to Reverse Proteinopathy.
Search Criteria
Mucin 4