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Venceslá A, Baena M, Fares Taie L, Cornet M, Baiget M, Tizzano EF. Haemophilia. 2008 May;14(3):489-93. Epub 2008 Apr 1
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Early response to idursulfase treatment in a 3 year-old boy affected of Hunter syndrome
Galán-Gómez E, Guerrero-Rico A, Cáceres-Marzal C, Zambrano-Castaño M, Moreno-Tejero ML, Grande-Tejada AM, Fernández-Hernández S, Vaquerizo-Madrid J, Cardesa-García JJ. Eur J Med Genet. 2008 May-Jun;51(3):268-71. Epub 2008 Mar 4
Schimke immunoosseous dysplasia: suggestions of genetic diversity
Clewing JM, Fryssira H, Goodman D, Smithson SF, Sloan EA, Lou S, Huang Y, Choi K, Lücke T, Alpay H, André JL, Asakura Y, Biebuyck-Gouge N, Bogdanovic R, Bonneau D, Cancrini C, Cochat P, Cockfield S, Collard L, Cordeiro I, Cormier-Daire V, Cransberg K, Cutka K, Deschenes G, Ehrich JH, Fründ S, Georgaki H, Guillen-Navarro…
DetallesDetection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations
Ballana E, Govea N, de Cid R, Garcia C, Arribas C, Rosell J, Estivill X. Hum Mutat. 2008 Feb;29(2):248-57
