Novel SLC12A1 mutations cause Bartter syndrome in two patients with different prognoses
Sheng Yi, Mengting Li, Qi Yang, Xiaofei Zhang, Fei Chen, Zailong Qin, Shang Yi, Limei Huang, Wei Hao, Qinle Zhang, Jingsi Luo
Topics & Concepts
Bartter syndromeExome sequencingMedicineMetabolic alkalosisPolyuriaCompound heterozygosityInternal medicinePediatricsEndocrinologyMutationBioinformaticsGeneticsGastroenterologyGeneBiologyHypokalemiaDiabetes mellitusIon Transport and Channel RegulationParathyroid Disorders and TreatmentsRenal function and acid-base balance