Hae Il Cheong Su Jin Cho Shou Huan Zheng Hee Yeon Cho Il Soo Ha Yong Choi
10.3346/jkms.2005.20.6.1076
J Korean Med Sci
2005 Dec;20(6):1076-8.
CC BY-NC
https://pubmed.ncbi.nlm.nih.gov/16361827/
Aquaporin 2 / genetics Diabetes Insipidus, Nephrogenic / genetics
Aquaporin 2 / genetics Diabetes Insipidus, Nephrogenic / genetics Case Reports Research Support, Non-U.S. Gov't Base Sequence Child, Preschool DNA / genetics DNA Mutational Analysis Diabetes Insipidus, Nephrogenic / congenital Female Genes, Recessive Heterozygote Humans Infant Male Mutation, Missense Point Mutation AQP2 protein, human Aquaporin 2 DNA
PMC2779314
16361827
Two novel mutations in the aquaporin 2 gene in a girl with congenital nephrogenic diabetes insipidus
2005