Autosomal SCID caused by a point mutation in the N-terminus of Jak3: Mapping of the Jak3-receptor interaction domain

EMBO Journal

Volumn 18, Issue 6, 1999, Pages 1549-1558

  Cacalano, Nicholas A ^a   Migone, Thi Sau ^a   Bazan, Fernando ^a   Hanson, Eric P ^b   Chen, Min ^b   Candotti, Fabio ^c   O'Shea, John J ^b   Johnston, James A ^a  

^a MERCK RESEARCH LABORATORIES   (United States)

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

^c NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

Common gamma chain; Interleukin 2; Jak kinase; Jak3; Receptor

Indexed keywords

INTERLEUKIN 2; INTERLEUKIN 2 RECEPTOR; PHOSPHOTRANSFERASE; STAT5B PROTEIN;

AMINO ACID SUBSTITUTION; AMINO TERMINAL SEQUENCE; ANIMAL CELL; ARTICLE; AUTOSOMAL INHERITANCE; B LYMPHOCYTE; BIOCHEMISTRY; CASE REPORT; COMBINED IMMUNODEFICIENCY; CONTROLLED STUDY; GENE MAPPING; HUMAN; HUMAN CELL; MOLECULAR INTERACTION; NONHUMAN; PHOSPHORYLATION; POINT MUTATION; PRIORITY JOURNAL; SIGNAL TRANSDUCTION;

ANIMALIA; JANUS;

EID: 0033559793     PISSN: 02614189     EISSN: None     Source Type: Journal    
DOI: 10.1093/emboj/18.6.1549     Document Type: Article

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