Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutation analyses and prenatal diagnosis in families of X-linked severe combined immunodeficiency caused by IL2Rγ gene novel mutation.

Genetics and molecular research : GMR - 11 Jun 2015

Bai Q L, Liu N, Kong X D, Xu X J, Zhao Z H

Abstract excerpt

We investigated the feasibility of interleukin-2 receptor gamma (IL2Rγ) gene based on gene mutation analysis and pre-natal diagnosis of X-linked severe combined immunodeficiency (X-SCID). Blood samples of patients and their parents of X-SCID (family 1) and X-SCID (family 2) were collected. IL2Rγ gene sequences of the 2 families were analyzed using bi-directional direct sequencing by polymerase chain reaction. DNA...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chorionic Villi Sampling
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Fetal Diseases

Share to Interleukin Receptor Common gamma Subunit

Share to Mutation

Share to Pedigree

Share to Pregnancy

Source

Identifiers

PMID: 26125817
DOI: 10.4238/2015.June.9.2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation analyses and prenatal diagnosis in families of X-linked severe combined immunodeficiency caused by IL2Rγ gene novel mutation.PMID 26125817Read ↗

[Mutation analyses and prenatal diagnosis in two families of X linked severe combined immunodeficiency caused by IL2RG gene novel mutation].Semantic proximity Read ↗

[Mutation analysis and prenatal diagnosis of a Chinese family with X-linked severe combined immunodeficiency].Semantic proximity Read ↗

X-linked severe combined immunodeficiency syndrome: the first Korean case with gamma c chain gene mutation and subsequent genetic counseling.Semantic proximity Read ↗

The first patient reported with X-linked severe combined immunodeficiency in PeruSemantic proximity Read ↗

Mutation analysis by a non-radioactive single-strand conformation polymorphism assay in nine families with X-linked severe combined immunodeficiency (SCIDX1).Semantic proximity Read ↗

Mutation Analysis of Three Infantile Cases of X-linked Severe Combined Immunodeficiency.Semantic proximity Read ↗

Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans.Semantic proximity Read ↗

Analysis of Mutations in the IL2RG Gene in 2 Asian Infants With X-linked Severe Combined Immunodeficiency.Semantic proximity Read ↗

IL2RG-related immunodeficiencies: from SCID to atypical presentations.Semantic proximity Read ↗

Novel mutation of IL2RG gene in a Korean boy with X-linked severe combined immunodeficiency.Semantic proximity Read ↗

Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. Cell 73: 147-157. 1993.Semantic proximity Read ↗

A New IL-2RG Gene Mutation in an X-linked SCID Identified through TREC/KREC Screening: a Case Report.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.