From lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes-Reference-Cited by-同舟云学术

From lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes

Published:2011-03-10 Issue:4 Volume:32 Page:379-388
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Hichri Haifa¹,Rendu John¹²,Monnier Nicole¹²,Coutton Charles³,Dorseuil Olivier⁴,Poussou Rosa Vargas⁵,Baujat Geneviève⁶,Blanchard Anne⁷,Nobili François⁸,Ranchin Bruno⁹,Remesy Michel¹⁰,Salomon Rémi¹¹,Satre Véronique³,Lunardi Joel¹²

Affiliation:

1. CHU Grenoble, Laboratoire de Biochimie et Génétique Moléculaire, Grenoble, France

2. INSERM U836, Grenoble Institut des Neurosciences, Grenoble, France

3. CHU Grenoble, Laboratoire de Génétique Chromosomique, Grenoble, France

4. Institut Cochin, Département de Génétique, Développement et Pathologie Moléculaire, INSERM U567‐CNRS UMR8104‐Université Paris V, Paris, France

5. Hôpital Européen Georges Pompidou, Département de Génétique et Inserm U 970, Paris, France

6. Hôpital Necker‐Enfants Malades, Département de Génétique, Paris, France

7. Hôpital Européen Georges Pompidou, Centre d'Investigation Clinique, Paris, France

8. CHU Besançon, Néphrologie Pédiatrique, Besançon, France

9. Hôpital Femme, Mère, Enfant, Hospices Civils de Lyon, Centre de Référence des Maladies, Rénales Rares, Bron, France

10. CHU Toulouse, Hôpital des Enfants, Service de Néphrologie, Toulouse, France

11. Hôpital Necker‐Enfants Malades, Centre de Référence des Maladies Rénales; Héréditaires de l'Enfant et de l'Adulte, Paris, France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.21391

Reference56 articles.

1. OCRLMutation analysis in Italian patients with Lowe syndrome

2. A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome

3. The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase

4. Dent-2 Disease: A Mild Variant of Lowe Syndrome

5. Renal Phenotype in Lowe Syndrome: A Selective Proximal Tubular Dysfunction

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