Title : Nephrogenic diabetes insipidus in a 15-year-old Hispanic female with a novel AQP2 mutation.

Pub. Date : 2019 Sep 25

PMID : 31348762






1 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 Gene testing reveals our patient is compound heterozygous for novel AQP2 gene mutations with a cytosine-to-thymine substitution at nucleotide position 277 and adenine-to-cytosine substitution at nucleotide position 659. Adenine aquaporin 2 Homo sapiens