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

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

Gene - 5 Sept 2017

He Yunyan, Jia Siyuan, Dewan Roma Kajal, Liao Ning

Abstract excerpt

To diagnose and investigate the genotype-phenotype relationship in intractable hereditary red blood cell (RBC) membrane cases, we have utilized next-generation sequencing (NGS) to develop a high-throughput, highly sensitive assay. Three unrelated families including 15 individuals were analysed with a panel interrogating 600 genes related to haematopathy disorders. Where possible, inheritance patterns of...

Read the complete abstract on PubMed

Topics

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

Share to Ankyrins
Share to Elliptocytosis, Hereditary
Share to Erythropoiesis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant

Share to Mutation, Missense

Share to Pedigree

Share to Spectrin

Share to Spherocytosis, Hereditary

Source

Identifiers

PMID: 28694211
DOI: 10.1016/j.gene.2017.07.009

Genes

ANK1
SPTA1

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 · 12 closest

Novel mutations in patients with hereditary red blood cell membrane disorders using next-generation sequencing.PMID 28694211Read ↗

Identification of new mutations in patients with hereditary spherocytosis by next-generation sequencing.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 p.Q1772X ANK1 mutation in a Korean family with hereditary spherocytosis.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 ↗

Clinical utility of targeted gene enrichment and sequencing technique in the diagnosis of adult hereditary spherocytosisSemantic proximity Read ↗

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

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

Molecular insights into hereditary elliptocytosis and pyropoikilocytosis: NGS uncovers multiple potential candidate genes.Semantic proximity Read ↗

Identification and functional analysis of novel SPTB and ANK1 mutations in hereditary spherocytosis patients.Semantic proximity Read ↗

Literature review on genotype-phenotype correlation in patients with hereditary spherocytosis.Semantic proximity Read ↗

Molecular diagnosis of hereditary spherocytosis by multi-gene target sequencing in Korea: matching with osmotic fragility test and presence of spherocyteSemantic proximity Read ↗

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