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Mutation c.256_257delAA in RAG1 Gene in Polish Children with Severe Combined Immunodeficiency: Diversity of Clinical Manifestations

机译：波兰严重合并免疫缺陷儿童RAG1基因突变c.256_257delAA：临床表现的多样性

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Anna Szaflarska; Magdalena Rutkowska-Zapała; Monika Kotula; Anna Gruca; Agnieszka Grabowska; Marzena Lenart; Marta Surman; Elżbieta Trzyna; Anna Mordel; Anna Pituch-Noworolska; Maciej Siedlar;
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1. Mutation c. 256_257delAA in RAG1 Gene in Polish Children with Severe Combined Immunodeficiency: Diversity of Clinical Manifestations [J] . Szaflarska Anna, Rutkowska-Zapala Magdalena, Kotula Monika, Archivum immunologiae et therapiae experimentalis . 2016,第Suppla1期

机译：突变c。波兰语儿童RAG1基因256_257delaa具有严重的免疫缺陷：临床表现的多样性
2. Erratum to: Molecular Diagnosis of Severe Combined Immunodeficiency—Identification of IL2RG, JAK3, IL7R, DCLRE1C, RAG1, and RAG2 Mutations in a Cohort of Chinese and Southeast Asian Children [J] . Pamela P. W. Lee, Koon-Wing Chan, Tong-Xin Chen, Journal of Clinical Immunology . 2013,第7期

机译：勘误至：严重合并免疫缺陷的分子诊断—中国和东南亚儿童队列中IL2RG，JAK3，IL7R，DCLRE1C，RAG1和RAG2突变的鉴定
3. Molecular diagnosis of severe combined immunodeficiency--identification of IL2RG, JAK3, IL7R, DCLRE1C, RAG1, and RAG2 mutations in a cohort of Chinese and Southeast Asian children. [J] . Lee PP, Chan KW, Chen TX, Journal of Clinical Immunology . 2011,第2期

机译：严重合并免疫缺陷的分子诊断-鉴定一组中国和东南亚儿童中的IL2RG，JAK3，IL7R，DCLRE1C，RAG1和RAG2突变。
4. Factor VII Deficiency:Clinical Manifestation and Molecular Genetics of 718 Subjects with FVII Gene Mutations [C] . F. H. Herrmann, K. Wulff, G. Auerswald, Hemophilia Symposium . 2008

机译：因子vii缺乏：718个受试者的临床表现与FVII基因突变的临床表现和分子遗传学
5. Risk factors for clinical manifestation in carriers of Factor V Leiden and prothrombin gene mutations. [D] . De Sancho, Maria. 2009

机译：因子V Leiden和凝血酶原基因突变携带者临床表现的危险因素。
6. Mutation c.256_257delAA in RAG1 Gene in Polish Children with Severe Combined Immunodeficiency: Diversity of Clinical Manifestations [O] . Anna Szaflarska, Magdalena Rutkowska-Zapała, Monika Kotula, -1

机译：波兰严重合并免疫缺陷儿童RAG1基因突变c.256_257delAA：临床表现的多样性
7. Mutations in genes required for T-cell development:IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review [O] . Lisa Kalman, Mary Lou Lindegren, Lisa Kobrynski, 2004

机译：T细胞发展所需基因的突变：IL7R，CD45，IL2RG，JAK3，RAG1，RAG2，Astemis和ADA和严重的综合免疫缺陷：巨大的审查

Mutation c.256_257delAA in RAG1 Gene in Polish Children with Severe Combined Immunodeficiency: Diversity of Clinical Manifestations

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