Repositório Científico do Instituto Nacional de Saúde >
Departamento de Genética Humana >
DGH - Artigos em revistas internacionais >

Please use this identifier to cite or link to this item: http://hdl.handle.net/10400.18/177

Título: Identification of novel L2HGDH gene mutations and update of the pathological spectrum
Autor: Vilarinho, Laura
Tafulo, Sandra
Sibilio, Michelina
Kok, Fernando
Fontana, Federica
Diogo, Luisa
Venâncio, Margarida
Ferreira, Mariana
Nogueira, Celia
Valongo, Carla
Parenti, Giancarlo
Amorim, António
Azevedo, Luisa
Palavras-chave: Common origin
Haplotypic structure
L2HGDH gene
Mutational spectrum;
Novel mutations
Organic aciduria
Doenças Genéticas
Issue Date: 1-Jan-2010
Editora: Nature Publishing Group
Citação: J Hum Genet. 2010 Jan;55(1):55-8. Epub 2009 Nov 13
Resumo: L-2-hydroxyglutaric aciduria (L-2-HGA, MIM 236792) is a neurometabolic disorder caused by the toxic accumulation of high concentration of L-2-hydroxyglutaric acid in plasma and cerebrospinal fluid. Distinct mutations on the L2HGDH gene have been associated with the clinical and biochemical phenotype. Here we present three novel mutations (Gln197X, Gly211Val and c.540+1 G4A), which increase the present deleterious collection of L2HGDH gene up to 35 mutations that we have compiled in this study. In addition, we used the haplotypic information based on polymorphic markers to demonstrate the common origin of Gly57Arg harboring chromosomes.
Arbitragem científica: yes
URI: http://hdl.handle.net/10400.18/177
ISSN: 1434-5161
Versão do Editor: http://web.ebscohost.com/ehost/pdfviewer/pdfviewer?vid=3&hid=113&sid=4ee4da1c-a731-4086-a49c-f5eaa5d0cef3%40sessionmgr110
Appears in Collections:DGH - Artigos em revistas internacionais

Files in This Item:

File Description SizeFormat
Identification of novel L2HGDH.pdf420,9 kBAdobe PDFView/Open
Restrict Access. You can request a copy!
Statistics
FacebookTwitterDeliciousLinkedInDiggGoogle BookmarksMySpaceOrkut
Formato BibTex mendeley Endnote Logotipo do DeGóis 

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

 

  © 2010 www.insa.pt - Todos os direitos reservados | Feedback Ministério da Saúde

Estamos no RCAAP Governo Português separator Ministério da Educação e Ciência  Fundação para a Ciência e a Tecnologia

Financiado por:

POS_C UE