Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome

Pediatric Allergy and Immunology

Volumn 22, Issue 5, 2011, Pages 482-487

  Zhang, Zhi Yong ^a   Zhao, Xiao Dong ^a   Jiang, Li Ping ^a   Liu, En Mei ^a   Cui, Yu Xia ^a   Wang, Mo ^a   Wei, Hong ^a   Yu, Jie ^a   An, Yun Fei ^a   Yang, Xi Qiang ^a  

^a CHONGQING MEDICAL UNIVERSITY   (China)

Author keywords

Molecular diagnosis; Mutation analysis; Omenn syndrome; RAG1; RAG2; Severe combined immunodeficiency

Indexed keywords

IMMUNOGLOBULIN E; OLIGOCLONAL BAND; RAG1 PROTEIN; T LYMPHOCYTE RECEPTOR BETA CHAIN;

ARTICLE; CASE REPORT; CHILD; CHINESE; DELETION MUTANT; FAMILY; GENE DELETION; GENE MUTATION; GENE REARRANGEMENT; GENETIC ANALYSIS; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; IMMUNOGLOBULIN BLOOD LEVEL; MALE; OMENN SYNDROME; PHENOTYPE; PRIORITY JOURNAL; SPECTROSCOPY; STOP CODON; WASTE;

ASIAN CONTINENTAL ANCESTRY GROUP; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FATAL OUTCOME; GENES, RAG-1; GENOTYPE; HETEROZYGOTE; HOMEODOMAIN PROTEINS; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; NUCLEAR PROTEINS; PHENOTYPE; RECEPTORS, ANTIGEN, T-CELL, ALPHA-BETA; SEVERE COMBINED IMMUNODEFICIENCY;

EID: 79960565979     PISSN: 09056157     EISSN: 13993038     Source Type: Journal    
DOI: 10.1111/j.1399-3038.2010.01126.x     Document Type: Article

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