Accumulation of Krebs cycle intermediates and over-expression of HIF1α in tumours which result from germline FH and SDH mutations

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Human Molecular Genetics, Vol. 14, Iss. 15, 2005-08 ,pp. : 2231-2239

Oxford University Press

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Mutations in Cullin 4B result in a human syndrome associated with increased camptothecin-induced topoisomerase I-dependent DNA breaks

By Kerzendorfer Claudia   Whibley Annabel   Carpenter Gillian   Outwin Emily   Chiang Shih-Chieh   Turner Gillian   Schwartz Charles   El-Khamisy Sherif   Raymond F. Lucy   O'Driscoll Mark  

Human Molecular Genetics, Vol. 19, Iss. 7, 2010-04 ,pp. : 1324-1334

Oxford University Press

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ABCA4 disease progression and a proposed strategy for gene therapy

By Cideciyan Artur V.   Swider Malgorzata   Aleman Tomas S.   Tsybovsky Yaroslav   Schwartz Sharon B.   Windsor Elizabeth A.M.   Roman Alejandro J.   Sumaroka Alexander   Steinberg Janet D.   Jacobson Samuel G.   Stone Edwin M.   Palczewski Krzysztof  

Human Molecular Genetics, Vol. 18, Iss. 5, 2009-03 ,pp. : 931-941

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ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies

By Wiszniewski Wojciech  

Human Molecular Genetics, Vol. 14, Iss. 19, 2005-10 ,pp. : 2769-2778

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PTHR1 mutations associated with Ollier disease result in receptor loss of function

By Couvineau Alain   Wouters Vinciane   Bertrand Guylne   Rouyer Christiane   Grard Bndicte   Boon Laurence M.   Grandchamp Bernard   Vikkula Miikka   Silve Caroline  

Human Molecular Genetics, Vol. 17, Iss. 18, 2008-09 ,pp. : 2766-2775

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