Article
Novel mutations in aquaporin-2 gene in female siblings with nephrogenic diabetes insipidus: evidence of disrupted water channel function.
The Journal of clinical endocrinology and metabolism - 1 Sept 1998
Goji K, Kuwahara M, Gu Y, Matsuo M, Marumo F, Sasaki S
Abstract excerpt
Novel mutations of the aquaporin-2 (AQP2) gene have been detected in Japanese female siblings with autosomal-recessive nephrogenic diabetes insipidus. The patients were compound heterozygote for point mutations at nucleotide position 374 (C374T) and at position 523 (G523A) in exon 2 of the AQP2 g...
Topics
- Amino Acid Sequence
- Animals
- Aquaporin 2
- Aquaporin 6
- Aquaporins
- Cell Membrane
- Child, Preschool
- Diabetes Insipidus, Nephrogenic
- Female
- Gene Expression
- Humans
- Immunoblotting
- Infant, Newborn
- Ion Channels
- Molecular Sequence Data
- Mutation
- Oocytes
- Pedigree