Distal RTA with nerve deafness: clinical spectrum and mutational analysis in five children

A simple salting out procedure for extracting DNA from human nucleated cells

S.A. Miller, Dale D. Dykes, Herbert F. Polesky · Nucleic Acids Research · 1988 · 20.6K citations · Full text

Life Sciences, Cell Biology, Molecular Biology +8

Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness

Fiona E. Karet, Karin E. Finberg, Raoul D. Nelson et al. · Nature Genetics · 1999 · 694 citations

Medicine, Genetics, Molecular Genetics +13

Novel <i>ATP6V1B1</i> and <i>ATP6V0A4</i> mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss

Elizabeth H. Stover · Journal of Medical Genetics · 2002 · 317 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Urinary phosphate/creatinine, calcium/creatinine, and magnesium/creatinine ratios in a healthy pediatric population

Vera Matos, Guy van Melle, Olivier Boulat et al. · The Journal of Pediatrics · 1997 · 267 citations

Medicine, Nephrology, Pediatrics +13

Genetic Investigation of Autosomal Recessive Distal Renal Tubular Acidosis

Rosa Vargas‐Poussou, Pascal Houillier, Nelly Le Pottier et al. · Journal of the American Society of Nephrology · 2006 · 140 citations

Life Sciences, Genetics, Molecular Genetics +15