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Bartter disease type 5
- ... Costa Rica and Kuwait than in other populations. Bartter syndrome can be caused by mutations in at least five genes. Mutations in the SLC12A1 gene cause type I. Type II results from mutations in the ...
- ... 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 2008 Sep 5. Citation on PubMed or Free article on PubMed ...
- ... 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 ...
- ... KCNJ1 gene have been identified in people with Bartter syndrome type II. This form of the disorder causes severe ... HW. Mutations in the ROMK gene in antenatal Bartter syndrome are associated with ... 1997 Jan 23;230(3):641-5. doi: 10.1006/bbrc.1996.6024. Citation on ...
- ... as autosomal dominant hypocalcemia with Bartter syndrome or Bartter syndrome type V.There are two types of autosomal dominant ...
- ... Sweating Genetic disorders, such as hypokalemic periodic paralysis , Bartter syndrome ... potassium level . Normal range is 3.7 to 5.2 mEq/L (3.7 to 5.2 ...