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

One novel deletion and one splicing mutation of the LKB1 gene in two Chinese patients with Peutz-Jeghers syndrome.

DNA and cell biology - 1 Oct 2012

Chen Chunyan, Zhang Xiaomei, Wang Fangyu, Liu Chang, Lu Heng, Wan Haijun, Wei Juan, Liu Jiong

Abstract excerpt

Peutz-Jeghers syndrome (PJS) is an uncommon autosomal dominant inherited disease, characterized by the occurrence of gastrointestinal hamartomatous polyps and pigmentation of the lips, buccal mucosa, and digits. Patients with PJS have a significant risk for developing tumors in multiple organs. G...

Read the complete abstract on PubMed

Topics

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

Share to AMP-Activated Protein Kinase Kinases
Share to Asian People
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Introns

Share to Peutz-Jeghers Syndrome

Share to Protein Serine-Threonine Kinases

Share to RNA Splicing

Source

Identifiers

PMID: 22928647
DOI: 10.1089/dna.2012.1720

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22928647-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

One novel deletion and one splicing mutation of the LKB1 gene in two Chinese patients with Peutz-Jeghers syndrome.PMID 22928647Read ↗

Genetic Screening and Analysis of LKB1 Gene in Chinese Patients with Peutz-Jeghers Syndrome.Semantic proximity Read ↗

Two novel STK11 mutations in three Chinese families with Peutz-Jeghers syndrome.Semantic proximity Read ↗

Analysis of STK11 gene variant in five Chinese patients with Peutz-Jeghers syndrome.Semantic proximity Read ↗

Two novel mutations and a new STK11/LKB1 gene isoform in Peutz-Jeghers patients.Semantic proximity Read ↗

[Mutation screening of LKB1 gene in familial Peutz-Jeghers syndrome patients].Semantic proximity Read ↗

A lesson from a reported pathogenic variant in Peutz-Jeghers syndrome: a case report.Semantic proximity Read ↗

Molecular and clinical characteristics in 46 families affected with Peutz-Jeghers syndrome.Semantic proximity Read ↗

A novel de novo mutation in LKB1 gene in a Chinese Peutz Jeghers syndrome patient significantly diminished p53 activity.Semantic proximity Read ↗

Clinical and genetic analysis of Peutz-Jeghers syndrome patients in Taiwan.Semantic proximity Read ↗

Genetic heterogeneity in Peutz-Jeghers syndromeSemantic proximity Read ↗

Clarification of the clinical significance of an intron variant in a case of Peutz–Jeghers syndrome with abnormal RNA splicing of STK11Semantic proximity Read ↗

Ganglioglioma arising in a Peutz-Jeghers patient: a case report with molecular implications.Semantic proximity Read ↗

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