Novel SLC12A1 (NKCC2) mutations in two families with Bartter syndrome type 1.
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Yumi Asakura | K. Fujieda | Toshiyuki Yamamoto | Toshiyuki Yamamoto | Kenji Fujieda | T. Tajima | Masanori Adachi | Yoshiaki Sato | Toshihiro Tajima | Takeo Nakajima | M. Adachi | Y. Asakura | Yoshiaki Sato | Takeo Nakajima
[1] T. Ohta,et al. Analysis of renal tubular electrolyte transporter genes in seven patients with hypokalemic metabolic alkalosis. , 2003, Kidney international.
[2] J. Nakae,et al. Two heterozygous mutations of CLDN16 in a Japanese patient with FHHNC , 2003, Pediatric Nephrology.
[3] C. Antignac,et al. Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome. , 1998, American journal of human genetics.
[4] Yusuke Nakamura,et al. JSNP: a database of common gene variations in the Japanese population , 2002, Nucleic Acids Res..
[5] M. Konrad,et al. Late-onset manifestation of antenatal Bartter syndrome as a result of residual function of the mutated renal Na+-K+-2Cl- co-transporter. , 2006, Journal of the American Society of Nephrology : JASN.
[6] R. Kleta,et al. Bartter Syndromes and Other Salt-Losing Tubulopathies , 2006, Nephron Physiology.
[7] D. Landau. Potassium handling in health and disease: lessons from inherited tubulopathies. , 2004, Pediatric endocrinology reviews : PER.
[8] R. Lifton,et al. Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na–K–2CI cotransporter NKCC2 , 1996, Nature Genetics.
[9] A. J. Shaer. Inherited primary renal tubular hypokalemic alkalosis: a review of Gitelman and Bartter syndromes. , 2001, The American journal of the medical sciences.
[10] R. Lifton,et al. Genetic heterogeneity of Barter's syndrome revealed by mutations in the K+ channel, ROMK , 1996, Nature Genetics.
[11] F. Hildebrandt,et al. Barttin is a Cl- channel β-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion , 2001, Nature.
[12] M. Koch,et al. A common NKCC2 mutation in Costa Rican Bartter's syndrome patients: evidence for a founder effect. , 1997, Journal of the American Society of Nephrology : JASN.
[13] G. Casari,et al. Phenotypic variability in Bartter syndrome type I , 2000, Pediatric Nephrology.
[14] J. A. Payne,et al. Molecular cloning and functional expression of the bumetanide-sensitive Na-K-Cl cotransporter. , 1994, Proceedings of the National Academy of Sciences of the United States of America.