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Bartter syndrome
- ... SLC12A1 gene have been identified in people with Bartter syndrome type I. This form of the disorder is ... Most of the SLC12A1 gene mutations responsible for Bartter syndrome change single protein building blocks (amino acids) in ...
- ... BSND gene have been identified in people with Bartter syndrome type IV. This form of the disorder causes ... abnormalities in the inner ear, which is why Bartter syndrome type IV is also known as antenatal Bartter ...
- ... CLCNKB gene have been identified in people with Bartter syndrome type III. This form of the condition, which is also described as classical Bartter syndrome, begins in childhood and tends to be less ...
- ... a role in normal hearing. Several people with Bartter syndrome have had mutations in both the CLCNKA gene ... a life-threatening form of the disorder called Bartter syndrome type IV. This condition is also known as ...
- ... KCNJ1 gene have been identified in people with Bartter syndrome type II. This form of the disorder causes ... Some of the KCNJ1 gene mutations responsible for Bartter syndrome change single protein building blocks (amino acids) in ...
- ... associated with mutations of insulin receptor: Is a Bartter-like syndrome a feature of congenital SIR? Acta Diabetol. 2013 ...
- ... Gitleman HJ, Lifton RP. Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in ...
