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

Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome.

American journal of medical genetics. Part A - 15 Jan 2007

Drera Bruno, Guala Andrea, Zoppi Nicoletta, Gardella Rita, Franceschini Piergiorgio, Barlati Sergio, Colombi Marina

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Arteries
Share to Chromosomes, Human, Pair 20
Share to Glucose Transport Proteins, Facilitative

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Neovascularization, Pathologic

Share to Pedigree

Share to Sequence Analysis, DNA

Share to Syndrome

Share to Vascular Diseases

Source

Identifiers

PMID: 17163528
DOI: 10.1002/ajmg.a.31514

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome.PMID 17163528Read ↗

A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome.Semantic proximity Read ↗

Arterial tortuosity syndrome in two Italian paediatric patients.Semantic proximity Read ↗

Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.Semantic proximity Read ↗

Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review.Semantic proximity Read ↗

Arterial tortuosity syndrome: phenotypic features and cardiovascular manifestations in 4 newly identified patients.Semantic proximity Read ↗

Arterial Tortuosity Syndrome: Keys to Early Diagnosis and Report of a New MutationSemantic proximity Read ↗

Arterial tortuosity syndrome: phenotypic and cardiovascular features in 4 newly identified patientsSemantic proximity Read ↗

Mutations in the SLC2A10 gene cause arterial abnormalities in mice.Semantic proximity Read ↗

Arterial tortuosity syndrome: a late and unexpected diagnosis and description of a novel likely pathogenic mutation.Semantic proximity Read ↗

Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.Semantic proximity Read ↗

Arterial tortuosity syndrome: case report.Semantic proximity Read ↗

SLC2A10 genetic polymorphism predicts development of peripheral arterial disease in patients with type 2 diabetes. SLC2A10 and PAD in type 2 diabetes.Semantic proximity Read ↗

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