Area of research
Molecular Biology · Cell Biology
Research interest
Research interests include Genetics, Biology, Mutation, Distal convoluted tubule, Tamm–Horsfall protein, and Endocrinology.
Sephardic origins revealed for rare skin disorder, recessive dystrophic epidermolysis bullosa, in individuals carrying the unique c.6527insC mutation
Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry
Uromodulin regulates renal magnesium homeostasis through the ion channel transient receptor potential melastatin 6 (TRPM6)