Reticular dysgenesis caused by an intronic pathogenic variant in <i>AK2</i>.

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作者： Shoji,Ichikawa ^[1] ; Susan,Prockop ^[2] ; Charlotte,Cunningham-Rundles ^[3] ; Travis,Sifers ^[4] ; Blair R,Conner ^[4] ; Sitao,Wu ^[5] ; Rachid,Karam ^[6] ; Michael F,Walsh ^[5] ; Elise,Fiala ^[2]

作者单位： Department of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, California 92656, USA. ^[1] MSK Kids, Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA. ^[2] MSK Kids, Stem Cell Transplant and Cellular Therapy, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA. ^[3] Division of Clinical Immunology, Departments of Medicine and Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA. ^[4] Department of Research and Development, Ambry Genetics, Aliso Viejo, California 92656, USA. ^[5] Department of Bioinformatics and Computational Biology, Ambry Genetics, Aliso Viejo, California 92656, USA. ^[6] Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York 10021, USA. ^[7]

关键词 severe combined immunodeficiency

主题词腺苷酸激酶(Adenylate Kinase);等位基因(Alleles);DNA突变分析(DNA Mutational Analysis);外显子(Exons);遗传关联研究(Genetic Association Studies);疾病遗传易感性(Genetic Predisposition to Disease);遗传变异(Genetic Variation);人类(Humans);婴儿(Infant);婴儿, 新生(Infant, Newborn);内含子(Introns);白细胞减少(Leukopenia);男(雄)性(Male);突变(Mutation);外周血干细胞移植(Peripheral Blood Stem Cell Transplantation);表型(Phenotype);RNA剪接(RNA Splicing);重症联合免疫缺陷(Severe Combined Immunodeficiency);治疗结果(Treatment Outcome)

DOI 10.1101/mcs.a005017

PMID 32532877

发布时间 2021-05-28

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Cold Spring Harbor molecular case studies

2020年6卷3期

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Reticular dysgenesis caused by an intronic pathogenic variant in <i>AK2</i>.

Cold Spring Harbor molecular case studies

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Cold Spring Harbor molecular case studies

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Reticular dysgenesis caused by an intronic pathogenic variant in <i>AK2</i>.

Cold Spring Harbor molecular case studies

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Cold Spring Harbor molecular case studies

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