Lanean...

Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene.

All affected patients in four families with autosomal dominant familial renal tubular acidosis (dRTA) were heterozygous for mutations in their red cell HCO3-/Cl- exchanger, band 3 (AE1, SLC4A1) genes, and these mutations were not found in any of the nine normal family members studied. The mutation A...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Bruce, L J, Cope, D L, Jones, G K, Schofield, A E, Burley, M, Povey, S, Unwin, R J, Wrong, O, Tanner, M J
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 1997
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC508352/
https://ncbi.nlm.nih.gov/pubmed/9312167
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!