Document Detail


Interleukin-2 receptor gamma-chain mutations in severe combined immunodeficiency with B-lymphocytes.
MedLine Citation:
PMID:  8956936     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
CONCLUSION: Our results emphasize the broad molecular heterogeneity of X-linked SCID and suggest the presence of mutational "hot spots" within the IL-2R gamma-chain gene.
Authors:
I Tsuge; H Matsuoka; T Abe; Y Kamachi; S Torii
Related Documents :
11020646 - Variable onset of metachromatic leukodystrophy in a vietnamese family.
22210206 - Engineering platforms for directed evolution of laccase from pycnoporus cinnabarinus.
23790486 - Juxtaposition of chemical and mutation-induced developmental defects in zebrafish revea...
23411256 - Multiple mutations of the critical amino acid residues for the sweetness of the sweet-t...
22832106 - Mutation hot spots in yeast caused by long-range clustering of homopolymeric sequences.
22371646 - Interleukin-10-1082g/a polymorphism and acute liver graft rejection: a meta-analysis.
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  European journal of pediatrics     Volume:  155     ISSN:  0340-6199     ISO Abbreviation:  Eur. J. Pediatr.     Publication Date:  1996 Dec 
Date Detail:
Created Date:  1997-03-25     Completed Date:  1997-03-25     Revised Date:  2013-05-20    
Medline Journal Info:
Nlm Unique ID:  7603873     Medline TA:  Eur J Pediatr     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  1018-24     Citation Subset:  IM    
Affiliation:
Department of Paediatrics, Nagoya University School of Medicine, Japan.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
B-Lymphocytes / immunology*
Blotting, Northern
Blotting, Southern
DNA / analysis
Fluorescent Antibody Technique, Direct
Gene Rearrangement, gamma-Chain T-Cell Antigen Receptor / genetics*
Humans
Infant
Male
Mutation*
Pedigree
Point Mutation
Polymerase Chain Reaction
RNA, Messenger / analysis
Receptors, Interleukin-2 / genetics*
Severe Combined Immunodeficiency / genetics*,  immunology
Chemical
Reg. No./Substance:
0/RNA, Messenger; 0/Receptors, Interleukin-2; 9007-49-2/DNA

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Iron therapy resistant microcytic anaemia in a 13-year-old girl with Castleman disease.
Next Document:  Exercise-induced anaphylaxis related to cuttlefish intake.