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Factor H deficiency
- ... nonfunctional version of the protein. The resulting shortage (deficiency) of complement factor H overactivates the complement system, which damages structures called ...
- ... factor G1 Tests of GFM1 PubMed MITOCHONDRIAL ELONGATION FACTOR G1; GFM1 NCBI Gene ClinVar Antonicka H, Sasarman F, Kennaway NG, Shoubridge EA. The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation ...
- ... Auerswald G, Ruiz-Saez A, Navarrete M, Pollmann H, Lopaciuk S, Batorova A, Wulff K; Greifswald Factor X Deficiency Study Group. Factor X deficiency: clinical manifestation of ...
- ... S, Astermark J, Batorova A, Kreuz W, Pollmann H, Ruiz-Saez A, De Bosch N, Salazar-Sanchez L; Greifswald Factor FVII Deficiency Study Group. Factor VII deficiency: clinical manifestation of ...
- ... article on PubMed Central Nouws J, Te Brinke H, Nijtmans LG, Houten SM. ACAD9, a complex I assembly factor with a moonlighting function in fatty acid oxidation deficiencies. Hum Mol Genet. 2014 Mar 1;23(5): ...
- ... N, Miteva MA, Genel F, Zelazko M, Marquart H, Muller K, Sjoholm AG, Truedsson L, Villoutreix BO, Blom AM. Genetic, molecular and functional analyses of complement factor I deficiency. Eur J Immunol. 2009 Jan;39(1):310- ...
- ... of the gene encoding RFX5, a novel transcription factor affected in major histocompatibility complex class II deficiency. Hum Mutat. 1997;10(6):430-5. doi: 10.1002/(SICI)1098-1004(1997)10:63.0.CO;2-H. Citation on PubMed
- ... A, Ivaskevicius V, Thomas A, Oldenburg J. Coagulation factor XIII deficiency. ... PJ, Ariens RA, Philippou H. The effect of blood coagulation factor XIII on ...
- ... A, Ivaskevicius V, Thomas A, Oldenburg J. Coagulation factor XIII deficiency. ... PJ, Ariens RA, Philippou H. The effect of blood coagulation factor XIII on ...
- ... Epub 2011 Dec 22. Citation on PubMed Peretz H, Salomon O, Mor-Cohen R, Usher S, Zucker M, Zivelin A, Seligsohn U. Type I mutation in the F11 gene is a third ancestral mutation which causes factor XI deficiency in Ashkenazi Jews. J Thromb Haemost. 2013 Apr; ...