Mutations of jak-3 gene in patients with autosomal severe combined immune deficiency (SCID)

Nature

Volumn 377, Issue 6544, 1995, Pages 65-68

  Macchi, Paolo ^a   Villa, Anna ^a   Giliani, Silvia ^b   Sacco, Maria G ^a   Frattini, Annalisa ^a   Porta, Fulvio ^b   Ugazio, Alberto G ^b   Johnston, James A ^c   Candotti, Fabio ^d   O’sheai, John J ^c   Vezzoni, Paolo ^a   Notarangelo, Luigi D ^b  

^a CNR   (Italy)

^b UNIVERSITY OF BRESCIA   (Italy)

^c NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES   (United States)

^d NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOKINE RECEPTOR; INTERLEUKIN 15 RECEPTOR; INTERLEUKIN 2 RECEPTOR; INTERLEUKIN 4 RECEPTOR; INTERLEUKIN 7; INTERLEUKIN 7 RECEPTOR; INTERLEUKIN 9; INTERLEUKIN 9 RECEPTOR; PROTEIN KINASE; TYROSINE;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; B LYMPHOCYTE; CASE REPORT; COMBINED IMMUNODEFICIENCY; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; HUMAN; INFANT; NEWBORN; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; T LYMPHOCYTE; X CHROMOSOME LINKAGE;

B-LYMPHOCYTES; BASE SEQUENCE; CELL LINE, TRANSFORMED; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; HUMAN; MOLECULAR SEQUENCE DATA; MUTATION; POLYMERASE CHAIN REACTION; PROTEIN-TYROSINE KINASE; SEQUENCE DELETION; SEVERE COMBINED IMMUNODEFICIENCY; SUPPORT, NON-U.S. GOV'T; T-LYMPHOCYTES;

EID: 0029164841     PISSN: 00280836     EISSN: None     Source Type: Journal    
DOI: 10.1038/377065a0     Document Type: Article

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