Mutations in conserved regions of the predicted RAG2 kelch repeats block initiation of V(D)J recombination and result in primary immunodeficiencies

Molecular and Cellular Biology

Volumn 20, Issue 15, 2000, Pages 5653-5664

  Gomez, Carlos A ^a   Ptaszek, Leon M ^a,f   Villa, Anna ^b   Bozzi, Fabio ^b   Sobacchi, Cristina ^b   Brooks, Edward G ^c   Notarangelo, Luigi D ^d   Spanopoulou, Eugenia ^a   Pan, Z Q ^a   Vezzoni, Paolo ^b   Cortes, Patricia ^e   Santagata, Sandro ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b CNR   (Italy)

^c University of Texas Medical Branch School of Medicine   (United States)

^d UNIVERSITY OF BRESCIA   (Italy)

^e NEW YORK UNIVERSITY   (United States)

^f YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; DNA SEQUENCE; GENE MUTATION; GENE STRUCTURE; GENETIC RECOMBINATION; HUMAN; IMMUNE DEFICIENCY; INFANT; MALE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN LOCALIZATION; PROTEIN PROTEIN INTERACTION;

AMINO ACID SEQUENCE; CELL LINE; CELL NUCLEUS; CONSERVED SEQUENCE; DNA-BINDING PROTEINS; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEAR PROTEINS; PROTEIN CONFORMATION; RECOMBINANT PROTEINS; RECOMBINATION, GENETIC; REPETITIVE SEQUENCES, AMINO ACID;

EID: 0033942616     PISSN: 02707306     EISSN: None     Source Type: Journal    
DOI: 10.1128/MCB.20.15.5653-5664.2000     Document Type: Article

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