An Egyptian family with H syndrome due to a novel mutation inSLC29A3illustrating overlapping features with pigmented hypertrichotic dermatosis with insulin-dependent diabetes and Faisalabad histiocytosis-Reference-Cited by-同舟云学术

An Egyptian family with H syndrome due to a novel mutation inSLC29A3illustrating overlapping features with pigmented hypertrichotic dermatosis with insulin-dependent diabetes and Faisalabad histiocytosis

Published:2012-09-18 Issue:6 Volume:14 Page:466-472
ISSN:1399-543X
Container-title:Pediatric Diabetes
language:en
Short-container-title:Pediatr Diabetes

Author:

Elbarbary Nancy S¹,Tjora Erling,Molnes Janne,Lie Benedicte A²,Habib Mohammad A³,Salem Mona A¹,Njølstad Pål Rasmus

Affiliation:

1. Department of Pediatrics, Faculty of Medicine; Ain Shams University; Cairo; Egypt

2. Department of Medical Genetics; University of Oslo; Oslo; Norway

3. Department of Dermatology, Faculty of Medicine; Ain Shams University; Cairo; Egypt

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology, and Child Health,Internal Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-5448.2012.00925.x/fullpdf

Reference28 articles.

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3. Functional characterization of novel human and mouse equilibrative nucleoside transporters (hENT3 and mENT3) located in intracellular membranes;Baldwin;J Biol Chem,2005

4. Mutations in the SLC29A3 gene are not a common cause of isolated autoantibody negative type 1 diabetes;Edghill;JOP,2009

5. Facilitated mitochondrial import of antiviral and anticancer nucleoside drugs by human equilibrative nucleoside transporter-3;Govindarajan;Am J Physiol Gastrointest Liver Physiol,2009

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