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

Identification of a novel p.Q1772X ANK1 mutation in a Korean family with hereditary spherocytosis.

PloS one - 1 Jan 2015

Han Joo Hyung, Kim Seung, Jang Hoon, Kim So Won, Lee Min Goo, Koh Hong, Lee Ji Hyun

Abstract excerpt

Hereditary spherocytosis (HS), a common form of inherited hemolytic anemia, is a heterogeneous group of disorders with regard to clinical severity, protein defects, and mode of inheritance. Causal mutations in at least five genes have been reported so far. Because multiple genes have been associated with HS, clinical genetic testing that relies on direct sequencing will be a challenge. In this study, we used...

Read the complete abstract on PubMed

Topics

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

Share to Ankyrins
Share to Codon, Nonsense
Share to Exome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family Health

Share to Hyperbilirubinemia

Share to Republic of Korea

Share to Spherocytosis, Hereditary

Share to Splenectomy

Source

Open in PubMed Open full text

Identifiers

PMID: 26107955
DOI: 10.1371/journal.pone.0131251
PMCID: PMC4480973

Genes

ANK1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of a novel p.Q1772X ANK1 mutation in a Korean family with hereditary spherocytosis.PMID 26107955Read ↗

Identification of a de novo ANK1 mutation in a Chinese family with hereditary spherocytosis.Semantic proximity Read ↗

Targeted next-generation sequencing identifies novel deleterious variants in ANK1 gene causing severe hereditary spherocytosis in Indian patients: expanding the molecular and clinical spectrum.Semantic proximity Read ↗

Identification of a novel ANK1 c.856C>T nonsense mutation in two patients from a Chinese family with hereditary spherocytosis by NGSSemantic proximity Read ↗

Identification of new mutations in patients with hereditary spherocytosis by next-generation sequencing.Semantic proximity Read ↗

A Novel de novo Mutation in ANK1 Gene Identified through Targeted Next-Generation Sequencing in a Neonate with Hereditary Spherocytosis.Semantic proximity Read ↗

Exome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis.Semantic proximity Read ↗

A novel splicing mutation of ANK1 is associated with phenotypic heterogeneity of hereditary spherocytosis in a Chinese family.Semantic proximity Read ↗

Novel mutations in patients with hereditary red blood cell membrane disorders using next-generation sequencing.Semantic proximity Read ↗

A Novel ANK1 Mutation in a Neonatal Hereditary Spherocytosis Case: Diagnostic Challenges and Familial Genetic Analysis.Semantic proximity Read ↗

Two novel ANK1 loss‐of‐function mutations in Chinese families with hereditary spherocytosisSemantic proximity Read ↗

Clinical manifestations and phenotypic analysis of new ANK1 gene mutations in 12 Chinese children with hereditary spherocytosisSemantic proximity Read ↗

Identification of novel variants in hereditary spherocytosis patients by whole-exome sequencing.Semantic proximity Read ↗

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