A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome.
about
X-linked immunodeficiency with hyper-IgM (XHIM).Immunological and genetic analysis of 65 patients with a clinical suspicion of X linked hyper-IgM.Mutational screening of the CD40 ligand (CD40L) gene in patients with X linked hyper-IgM syndrome (XHIM) and determination of carrier status in female relatives.Clinical application of whole-genome sequencing in patients with primary immunodeficiency.Hyper IgM Syndrome: a Report from the USIDNET RegistryImmunoglobulin class switch recombination deficiency type 1 or CD40 ligand deficiency: from bedside to bench and back again.First report of the Hyper-IgM syndrome Registry of the Latin American Society for Immunodeficiencies: novel mutations, unique infections, and outcomes.Clinical features and genetic analysis of 20 Chinese patients with X-linked hyper-IgM syndrome.A mutation in X-linked inhibitor of apoptosis (G466X) leads to memory inflation of Epstein-Barr virus-specific T cells.Non-functional immunoglobulin G transcripts in a case of hyper-immunoglobulin M syndrome similar to type 4.Clinical and genetic analysis of patients with X-linked hyper-IgM syndrome
P2860
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P2860
A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on January 1996
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
A single strand conformation p ...... r X-linked hyper IgM syndrome.
@en
A single strand conformation p ...... r X-linked hyper IgM syndrome.
@nl
type
label
A single strand conformation p ...... r X-linked hyper IgM syndrome.
@en
A single strand conformation p ...... r X-linked hyper IgM syndrome.
@nl
prefLabel
A single strand conformation p ...... r X-linked hyper IgM syndrome.
@en
A single strand conformation p ...... r X-linked hyper IgM syndrome.
@nl
P2093
P2860
P356
P1476
A single strand conformation p ...... r X-linked hyper IgM syndrome.
@en
P2093
A O Shigeoka
D C Derauf
J M Greene
J W Belmont
M E Conley
P2860
P304
P356
10.1172/JCI118389
P407
P577
1996-01-01T00:00:00Z