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

A 10 bp deletion polymorphism and 2 new variations in the GLUT1 gene associated with meningomyelocele.

Reproductive sciences (Thousand Oaks, Calif.) - 1 May 2011

Cormier Clint M, Au Kit Sing, Northrup Hope

Abstract excerpt

We sought to examine the diversity and extent of sequence variations in GLUT1 in patients with myelomeningocele (MM) and to identify variations conferring risk of MM. Sequences of the 10 exons and exon-intron boundaries of GLUT1 for 96 patients with MM (48 Caucasians and 48 Mexican Americans) were determined by direct sequencing of DNA. Two new variants were identified. One is located within intron 7...

Read the complete abstract on PubMed

Topics

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

Share to Cohort Studies
Share to Genetic Association Studies
Share to Glucose Transporter Type 1

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mexican Americans

Share to Polymorphism, Single Nucleotide

Share to Sequence Deletion

Share to White People

Source

Open in PubMed Open full text

Identifiers

PMID: 21135204
DOI: 10.1177/1933719110388293
PMCID: PMC3117222

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 11 closest

A 10 bp deletion polymorphism and 2 new variations in the GLUT1 gene associated with meningomyelocele.PMID 21135204Read ↗

Genetic variations in the GLUT3 gene associated with myelomeningocele.Semantic proximity Read ↗

Association of facilitated glucose transporter 2 gene variants with the myelomeningocele phenotype.Semantic proximity Read ↗

Deep sequencing study of the MTHFR gene to identify variants associated with myelomeningocele.Semantic proximity Read ↗

Novel single nucleotide polymorphisms in the superoxide dismutase 1 and 2 genes among children with myelomeningocele.Semantic proximity Read ↗

Brain tumor risk according to germ-line variation in the MLLT10 locus.Semantic proximity Read ↗

Myelomeningocele among Pakistani population.Semantic proximity Read ↗

Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing.Semantic proximity Read ↗

Association of copper-zinc superoxide dismutase (SOD1) and manganese superoxide dismutase (SOD2) genes with nonsyndromic myelomeningocele.Semantic proximity Read ↗

Implications of a RAD54L polymorphism (2290C/T) in human meningiomas as a risk factor and/or a genetic marker.Semantic proximity Read ↗

The impact of BRCA1 on spina bifida meningomyelocele lesions.Semantic proximity Read ↗

Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma.Semantic proximity Read ↗

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