Discovery of a novel dominant mutation in the REN gene after forty years of renal disease: a case report.

Clissold, Rhian L; Clarke, Helen C; Spasic-Boskovic, Olivera; Brugger, Kim; Abbs, Stephen; Bingham, Coralie; Shaw-Smith, Charles

Clissold, Rhian L; Clarke, Helen C; Spasic-Boskovic, Olivera; Brugger, Kim; Abbs, Stephen; Bingham, Coralie; Shaw-Smith, Charles.

Afiliación

Clissold RL; Royal Devon and Exeter NHS Foundation Trust, Barrack Road, Exeter, Devon, EX2 5DW, UK.
Clarke HC; University of Exeter Medical School, Barrack Road, Exeter, Devon, EX2 5DW, UK.
Spasic-Boskovic O; Royal Devon and Exeter NHS Foundation Trust, Barrack Road, Exeter, Devon, EX2 5DW, UK.
Brugger K; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Abbs S; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Bingham C; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Shaw-Smith C; Royal Devon and Exeter NHS Foundation Trust, Barrack Road, Exeter, Devon, EX2 5DW, UK.

BMC Nephrol ; 18(1): 234, 2017 Jul 12.

Article en En | MEDLINE | ID: mdl-28701203

Asunto(s)

Mutación/genética; Nefritis Intersticial/diagnóstico; Nefritis Intersticial/genética; Renina/genética; Secuencia de Aminoácidos; Femenino; Humanos; Trasplante de Riñón; Persona de Mediana Edad; Nefritis Intersticial/cirugía; Linaje; Factores de Tiempo

Palabras clave

Case report; Genetics; Kidney disease; Renin

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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Renina / Mutación / Nefritis Intersticial Tipo de estudio: Prognostic_studies Idioma: En Revista: BMC Nephrol Asunto de la revista: NEFROLOGIA Año: 2017 Tipo del documento: Article

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