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Publications by Marjan Huizing
The Promoter of a Lysosomal Membrane Transporter Gene, CTNS, Binds Sp-1, Shares Sequences With the Promoter of an Adjacent Gene, CARKL, and Causes Cystinosis if Mutated in a Critical Region
American Journal of Human Genetics
Genetics
Mutation in the Key Enzyme of Sialic Acid Biosynthesis Causes Severe Glomerular Proteinuria and Is Rescued by N-Acetylmannosamine
Journal of Clinical Investigation
Medicine
Alveolar Macrophage Dysregulation in Hermansky-Pudlak Syndrome Type 1
American Journal of Respiratory and Critical Care Medicine
Pulmonary
Critical Care
Respiratory Medicine
Intensive Care Medicine
Hermansky-Pudlak Syndrome and Chediak-Higashi Syndrome: Disorders of Vesicle Formation and Trafficking
Thrombosis and Haemostasis
Hematology
Breakpoint Identification, Detection and Frequency of the 65-Kb Deletion in the Cystinosis Gene, CTNS
Pediatric Research
Child Health
Pediatrics
Perinatology
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