A novel pattern of mutation in uromodulin disorders: autosomal dominant medullary cystic kidney disease type 2, familial juvenile hyperuricemic nephropathy, and autosomal dominant glomerulocystic kidney disease.

Lens, Xosé M; Banet, Julio F; Outeda, Patricia; Barrio-Lucía, Vicente

Lens, Xosé M; Banet, Julio F; Outeda, Patricia; Barrio-Lucía, Vicente.

Affiliation

Lens XM; Laboratorio de Investigación en Nefroloxía, Complexo Hospitalario Universitario de Santiago, Santiago de Compostela, Spain. xose.manuel.lens.neo@sergas.es

Am J Kidney Dis ; 46(1): 52-7, 2005 Jul.

Article in En | MEDLINE | ID: mdl-15983957

Subject(s)

Hyperuricemia/genetics; Mucoproteins/genetics; Mutation, Missense; Point Mutation; Polycystic Kidney, Autosomal Dominant/genetics; Adult; Aged; Amino Acid Sequence; Amino Acid Substitution; DNA Mutational Analysis; Exons/genetics; Female; Haplotypes; Humans; Hyperuricemia/epidemiology; Lod Score; Male; Middle Aged; Molecular Sequence Data; Mucoproteins/chemistry; Pedigree; Phenotype; Polycystic Kidney, Autosomal Dominant/classification; Polycystic Kidney, Autosomal Dominant/epidemiology; Protein Structure, Tertiary; Sequence Alignment; Sequence Homology, Amino Acid; Spain/epidemiology; Species Specificity; Uromodulin

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PubMed Links

Database: MEDLINE Main subject: Polycystic Kidney, Autosomal Dominant / Point Mutation / Mutation, Missense / Hyperuricemia / Mucoproteins Limits: Adult / Aged / Female / Humans / Male / Middle aged Country/Region as subject: Europa Language: En Year: 2005 Type: Article

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