Characterization of a new disease-causing mutation of SH2D1A in a family with X-linked lymphoproliferative disease.

Human mutation

Volumn 25, Issue 5, 2005, Pages 506-

  Erdõs, Melinda ^a   Uzvölgyi, Eva ^a   Nemes, Zoltán ^a   Török, Olga ^a   Rákóczi, Eva ^a   Went Sümegi, Nils ^a   Sümegi, János ^a   Maródi, László ^a  

^a UNIVERSITY OF DEBRECEN   (Hungary)

Author keywords

[No Author keywords available]

Indexed keywords

2B4 PROTEIN, HUMAN; CD150 ANTIGEN; CELL SURFACE RECEPTOR; GLYCOPROTEIN; IMMUNOGLOBULIN; IMMUNOGLOBULIN RECEPTOR; LEUKOCYTE ANTIGEN; MEMBRANE PROTEIN; SH2D1A PROTEIN, HUMAN; SIGNAL PEPTIDE;

AMINO ACID SEQUENCE; ANIMAL; ARTICLE; CASE REPORT; CELL STRAIN COS1; CERCOPITHECUS; CHEMISTRY; CHILD; GENETIC PREDISPOSITION; GENETICS; HALF LIFE TIME; HUMAN; INFECTIOUS MONONUCLEOSIS; LYMPHOPROLIFERATIVE DISEASE; MALE; METABOLISM; MISSENSE MUTATION; MOLECULAR GENETICS; PEDIGREE; PHYSIOLOGY; PROTEIN BINDING;

AMINO ACID SEQUENCE; ANIMALS; ANTIGENS, CD; CERCOPITHECUS AETHIOPS; CHILD; COS CELLS; GENETIC PREDISPOSITION TO DISEASE; GLYCOPROTEINS; HALF-LIFE; HUMANS; IMMUNOGLOBULINS; INFECTIOUS MONONUCLEOSIS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; LYMPHOPROLIFERATIVE DISORDERS; MALE; MEMBRANE GLYCOPROTEINS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PROTEIN BINDING; RECEPTORS, CELL SURFACE; RECEPTORS, IMMUNOLOGIC;

MLCS; MLOWN;

EID: 33744533631     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9339     Document Type: Article

References (0)