Lymphoproliferative disorders caused by hereditary genetic defects
نویسندگان
چکیده
منابع مشابه
A review of craniofacial disorders caused by spliceosomal defects.
The spliceosome is a large ribonucleoprotein complex that removes introns from pre-mRNA transcripts. Mutations in EFTUD2, encoding a component of the major spliceosome, have recently been identified as the cause of mandibulofacial dysostosis, Guion-Almeida type (MFDGA), characterized by mandibulofacial dysostosis, microcephaly, external ear malformations and intellectual disability. Mutations i...
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27. Thol F, Weissinger EM, Krauter J, Wagner K, Damm F, Wichmann F, et al. IDH1 mutations in patients with myelodysplastic syndromes are associated with an unfavorable prognosis. Haematologica 2010;95(10):1668-74. 28. Kosmider O, Gelsi-Boyer V, Slama L, Dreyfus F, Beyne-Rauzy O, Quesnel B, et al. Mutations of IDH1 and IDH2 genes in early and accelerated phases of myelodysplastic syndromes and M...
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ژورنال
عنوان ژورنال: Japanese Journal of Clinical Immunology
سال: 2003
ISSN: 0911-4300,1349-7413
DOI: 10.2177/jsci.26.311