Clinical and biochemical heterogeneity associated with fumarase deficiency-Reference-Cited by-同舟云学术

Clinical and biochemical heterogeneity associated with fumarase deficiency

Published:2011-07-12 Issue:9 Volume:32 Page:1046-1052
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Ottolenghi Chris,Hubert Laurence,Allanore Yannick,Brassier Anais,Altuzarra Cécilia,Mellot-Draznieks Caroline,Bekri Soumeya,Goldenberg Alice,Veyrieres Severine,Boddaert Nathalie,Barbier Valérie,Valayannopoulos Vassili,Slama Abdelhamid,Chrétien Dominique,Ricquier Daniel,Marret Stéphane,Frebourg Thierry,Rabier Daniel,Munnich Arnold,de Keyzer Yves,Toulhoat Hervé,de Lonlay Pascale

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.21534/fullpdf

Reference42 articles.

1. Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency;Alam;Hum Mol Genet,2003

2. Fumaric aciduria: an overview and the first Brazilian case report;Allegri;J Inherit Metab Dis,2010

3. Angiogenesis in systemic sclerosis: impaired expression of vascular endothelial growth factor receptor 1 in endothelial progenitor-derived cells under hypoxic conditions;Avouac;Arthritis Rheum,2008

4. The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency;Bayley;BMC Med Genet,2008

5. Fumarate hydratase deficiency;Bonioli;J Inherit Metab Dis,1998

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