Localization of a Gene for Autosomal Recessive Distal Renal Tubular Acidosis with Normal Hearing ( rdRTA2 ) to 7q33-34
Karet F, Finberg K, Nayir A, Bakkaloglu A, Ozen S, Hulton S, Sanjad S, Al-Sabban E, Medina J, Lifton R. Localization of a Gene for Autosomal Recessive Distal Renal Tubular Acidosis with Normal Hearing ( rdRTA2 ) to 7q33-34. American Journal Of Human Genetics 1999, 65: 1656-1665. PMID: 10577919, PMCID: PMC1288376, DOI: 10.1086/302679.Peer-Reviewed Original ResearchMeSH KeywordsAcidosis, Renal TubularAdenosine TriphosphatasesAdultAnion Transport ProteinsAntiportersChildChild, PreschoolChromosome MappingChromosomes, Human, Pair 2Chromosomes, Human, Pair 7ConsanguinityDNA Mutational AnalysisFemaleGenes, RecessiveHearingHumansHydrogen-Ion ConcentrationInfantInfant, NewbornLod ScoreMaleMembrane ProteinsMiddle EastMolecular Sequence DataPakistanPedigreePolymorphism, Single-Stranded ConformationalSLC4A ProteinsConceptsDistal renal tubular acidosesSensorineural hearing lossNormal hearingProgressive bilateral sensorineural hearing lossBilateral sensorineural hearing lossAutosomal recessive distal renal tubular acidosisDistal renal tubular acidosisRecessive distal renal tubular acidosisSevere metabolic acidosisRenal tubular acidosisRenal tubular acidosesMetabolic acidosisTubular acidosisRenal calcificationHearing lossAlkaline urineATP6B1Distal nephronImpaired hearingApical proton pumpChildhood featuresAcidosisOne-thirdMolecular examinationHearing