Structural basis of fumarate hydratase deficiency
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-011-9294-8
Reference35 articles.
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3. Badeloe S, van Geel M, van Steensel MA, Bastida J, Ferrando J, Steijlen PM, Frank J, Poblete-Gutierrez P (2006) Diffuse and segmental variants of cutaneous leiomyomatosis: novel mutations in the fumaratehydratase gene and review of the literature. Exp Dermatol 15:735–741
4. Bayley JP, Launonen V, Tomlinson IP (2008) The FH mutation database: an online database of fumaratehydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency. BMC Med Genet 9:20
5. Bourgeron T, Chretien D, Poggi-Bach J, Doonan S, Rabier D, Letouze P, Munnich A, Rotig A, Landrieu P, Rustin P (1994) Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency. J Clin Invest 93:2514–2518
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