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Results 1 - 5 of 5 for Bartter disease type 1
  1. BSND gene 
    ... Fahlke C. Disease-causing dysfunctions of barttin in Bartter syndrome type IV. J Am Soc Nephrol. 2009 Jan;20(1):145-53. doi: 10.1681/ASN.2008010102. Epub ...
    https://medlineplus.gov/genetics/gene/bsnd - Genetics
  2. CLCNKB gene 
    ... CLCNKB gene have been identified in people with Bartter syndrome type III. This form of the condition, which is ... Bartter syndrome.Many of the mutations responsible for Bartter syndrome type III delete the entire CLCNKB gene. Other mutations ...
    https://medlineplus.gov/genetics/gene/clcnkb - Genetics
  3. CLCNKA gene 
    ... a life-threatening form of the disorder called Bartter syndrome type IV. This condition is also known as antenatal ... is responsible for the hearing loss characteristic of Bartter syndrome type IV. More About This Health Condition Studies suggest ...
    https://medlineplus.gov/genetics/gene/clcnka - Genetics
  4. SLC12A1 gene 
    ... SLC12A1 gene have been identified in people with Bartter syndrome type I. This form of the disorder is very ... human Na-K-2Cl cotransporter (NKCC2) identified in Bartter syndrome type I consistently result in nonfunctional transporters. J Am ...
    https://medlineplus.gov/genetics/gene/slc12a1 - Genetics
  5. KCNJ1 gene 
    ... KCNJ1 gene have been identified in people with Bartter syndrome type II. This form of the disorder causes severe ... PubMed POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 1; KCNJ1 ... A, Seyberth HW. Mutations in the ROMK gene in antenatal Bartter syndrome are associated with impaired K+ channel function. Biochem ...
    https://medlineplus.gov/genetics/gene/kcnj1 - Genetics