Two novel mutations in the aquaporin 2 gene in a girl with congenital nephrogenic diabetes Insipidus

Medicine and Dentistry

• Aquaporin 2 100%
• Nephrogenic Diabetes Insipidus 100%
• Gene Mutation 66%
• Autosomal Recessive Inheritance 50%
• Disease 33%
• Vasopressin 33%
• Exon 33%
• Inheritance 16%
• Receptor Gene 16%
• Family History 16%
• Point Mutation 16%
• Vasopressin V2 Receptor 16%
• Polydipsia 16%
• Antidiuretic 16%
• Polyuria 16%

Biochemistry, Genetics and Molecular Biology

• Aquaporin 2 100%
• Gene Mutation 66%
• Autosomal Recessive Inheritance 50%
• Vasopressin 50%
• Exon 33%
• Missense 16%
• Point Mutation 16%
• Inheritance 16%
• Receptor Gene 16%