A novel missense RAG-1 mutation results in T-B- NK+ SCID in Athabascan-speaking Dine Indians from the Canadian Northwest Territories

European Journal of Human Genetics

Volumn 17, Issue 2, 2009, Pages 205-212

  Xiao, Zheng ^a   Yannone, Steven M ^b   Dunn, Elizabeth ^a   Cowan, Morton J ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b LAWRENCE BERKELEY NATIONAL LABORATORY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

B LYMPHOCYTE RECEPTOR; IMMUNOGLOBULIN; RAG1 PROTEIN; RECOMBINASE; T LYMPHOCYTE RECEPTOR; THYMOCYTE ANTIBODY;

AMERICAN INDIAN; ARTICLE; BLOOD TRANSFUSION; BLOODY DIARRHEA; BONE MARROW TRANSPLANTATION; CANADA; CASE REPORT; CHILD; CHROMOSOME 10; CHRONIC DIARRHEA; CYTOMEGALOVIRUS INFECTION; FATALITY; FEMALE; GENETIC RECOMBINATION; GRAFT VERSUS HOST REACTION; HOMOZYGOSITY; HUMAN; HUMAN CELL; INFECTION; IONIZING RADIATION; JAUNDICE; LOBAR PNEUMONIA; LYMPHOCYTOPENIA; MALE; MISSENSE MUTATION; MONOCLONAL IMMUNOGLOBULINEMIA; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RADIOSENSITIVITY; RESPIRATORY DISTRESS; SEVERE COMBINED IMMUNODEFICIENCY; SKIN FIBROBLAST; THROMBOCYTOPENIA; THRUSH;

CANADA; DNA REPAIR; FEMALE; GENES, RAG-1; HOMEODOMAIN PROTEINS; HUMANS; INDIANS, NORTH AMERICAN; MALE; MUTATION, MISSENSE; SEVERE COMBINED IMMUNODEFICIENCY; VDJ RECOMBINASES;

EID: 58349102486     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2008.150     Document Type: Article

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