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A role for VAX2 in correct retinal function revealed by a novel genomic deletion at 2p13.3 causing distal Renal Tubular Acidosis: case report.
Norgett, Elizabeth E; Yii, Anthony; Blake-Palmer, Katherine G; Sharifian, Mostafa; Allen, Louise E; Najafi, Abdolhamid; Kariminejad, Ariana; Karet Frankl, Fiona E.
Afiliação
  • Norgett EE; Departments of Medical Genetics, Renal Medicine and Ophthalmology, University of Cambridge, Cambridge, UK. een22@cam.ac.uk.
  • Yii A; Cambridge Institute for Medical Research, Box 139, Cambridge Biomedical Campus, Cambridge, CB2 0XY, UK. een22@cam.ac.uk.
  • Blake-Palmer KG; Departments of Medical Genetics, Renal Medicine and Ophthalmology, University of Cambridge, Cambridge, UK. anthony.yii@cantab.net.
  • Sharifian M; Departments of Medical Genetics, Renal Medicine and Ophthalmology, University of Cambridge, Cambridge, UK. kgb24@cantab.net.
  • Allen LE; Cambridge Institute for Medical Research, Box 139, Cambridge Biomedical Campus, Cambridge, CB2 0XY, UK. kgb24@cantab.net.
  • Najafi A; Pediatric Nephrology Research Center, Pediatric Infections Research Centre (PIRC), Shaheed Beheshti University of Medical Sciences, Tehran, Iran. sharifian.dorche@gmail.com.
  • Kariminejad A; Departments of Medical Genetics, Renal Medicine and Ophthalmology, University of Cambridge, Cambridge, UK. louise.allen@addenbrookes.nhs.uk.
  • Karet Frankl FE; Azad University Medical Branch, Tehran, Iran. hamidnajafi20@gmail.com.
BMC Med Genet ; 16: 38, 2015 Jun 13.
Article em En | MEDLINE | ID: mdl-26068435
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Retina / Acidose Tubular Renal / Cromossomos Humanos Par 2 / Genoma Humano / Deleção de Sequência / Proteínas de Homeodomínio Tipo de estudo: Prognostic_studies Limite: Adult / Child, preschool / Humans / Infant / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Retina / Acidose Tubular Renal / Cromossomos Humanos Par 2 / Genoma Humano / Deleção de Sequência / Proteínas de Homeodomínio Tipo de estudo: Prognostic_studies Limite: Adult / Child, preschool / Humans / Infant / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article