2012
Familial renal glucosuria: a clinicogenetic study of 23 additional cases
Lee H, Han K, Park H, Shin J, Kim C, Namgung M, Kim K, Koo J, Chung W, Lee D, Kim S, Cheong H. Familial renal glucosuria: a clinicogenetic study of 23 additional cases. Pediatric Nephrology 2012, 27: 1091-1095. PMID: 22314875, DOI: 10.1007/s00467-012-2109-9.Peer-Reviewed Original ResearchConceptsHeterozygous mutationsInherited renal tubular disorderRenal tubular disorderCompound heterozygous mutationsUrinary glucose excretionGenotype-phenotype correlationAbsence of hyperglycemiaSLC5A2 mutationsSLC5A2 geneTubular disordersMulticenter studyRenal glucosuriaGlucose excretionMethodsMutation analysisNovel mutationsPediatric nephrologyPatientsMutated alleleIncomplete penetranceCoding genesAllelic heterogeneityKorean childrenSLC5A2ConclusionsThese findingsPhenotypic analysis
2002
Insertional mutagenesis in zebrafish rapidly identifies genes essential for early vertebrate development
Golling G, Amsterdam A, Sun Z, Antonelli M, Maldonado E, Chen W, Burgess S, Haldi M, Artzt K, Farrington S, Lin S, Nissen R, Hopkins N. Insertional mutagenesis in zebrafish rapidly identifies genes essential for early vertebrate development. Nature Genetics 2002, 31: 135-140. PMID: 12006978, DOI: 10.1038/ng896.Peer-Reviewed Original ResearchConceptsEarly vertebrate developmentVertebrate developmentInsertion mutantsMutagenesis screenAmino acid sequenceDiversity of genesInsertional mutagenesis screenBiological role in vivoChemical mutagenesis screenDisrupted geneCellular functionsInsertional mutagenesisBiochemical functionsPleiotropic abnormalitiesEmbryonic phenotypeMutantsMutated alleleSpecies—andGenesVertebrate embryosDevelopmental defectsVertebratesSwimming behaviorZebrafishBody shape
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