Identification of novel mutations in theSLC25A15gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: A clinical, molecular, and functional study-Reference-Cited by-同舟云学术

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Identification of novel mutations in theSLC25A15gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: A clinical, molecular, and functional study

Published:2009-02-25 Issue:5 Volume:30 Page:741-748
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Tessa Alessandra,Fiermonte Giuseppe,Dionisi-Vici Carlo,Paradies Eleonora,Baumgartner Matthias R.,Chien Yin-Hsiu,Loguercio Carmela,de Baulny Helene Ogier,Nassogne Marie-Cecile,Schiff Manuel,Deodato Federica,Parenti Giancarlo,Lane Rutledge S.,Antonia Vilaseca M.,Melone Mariarosa A.B.,Scarano Gioacchino,Aldamiz-Echevarría Luiz,Besley Guy,Walter John,Martinez-Hernandez Eugenia,Hernandez Jose M.,Pierri Ciro L.,Palmieri Ferdinando,Santorelli Filippo M.

Funder

Ministero della Ricerca e dell'Università (MUR)

Italian National Research Council (CNR)

Istituto Superiore di Sanità

Pierfranco and Luisa Mariani Foundation ONLUS

Telethon Foundation

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.20930/fullpdf

Reference35 articles.

1. Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with stroke-like imaging presentation: clinical, biochemical and molecular analysis;Al-Hassnan;J Neurol Sci,2008

2. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA;Andrews;Nat Genet,1999

3. Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter;Camacho;Nat Genet,1999

4. Cloning and characterization of human ORNT2: a second mitochondrial ornithine transporter that can rescue a defective ORNT1 in patients with the hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, a urea cycle disorder;Camacho;Mol Genet Metab,2003

5. Clinical and functional characterization of a human ORNT1 mutation (T32R) in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome;Camacho;Pediatr Res,2006

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