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Abnormal renal physiology
- ... M. Heteromeric amino acid transporters: biochemistry, genetics, and physiology. Am J Physiol Renal Physiol. 2001 Dec;281(6):F995-1018. doi: ...
- ... abnormalities, although not everyone with this form has abnormal blood cells. The prevalence of SLC4A1-associated distal renal tubular acidosis is unknown. The condition is most ...
- ... found to cause a severe kidney disorder called renal tubular dysgenesis. This condition is characterized by abnormal kidney development before birth, the inability to produce ...
- ... can lead to hemolytic anemia, in which the abnormal red blood cells are prematurely broken down. SLC4A1 gene mutations cause both autosomal dominant and autosomal recessive forms of SLC4A1-associated distal renal tubular acidosis.The SLC4A1 gene mutations involved in ...