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

Ankyrin gene mutations in japanese patients with hereditary spherocytosis.

International journal of hematology - 1 Jan 2001

Nakanishi H, Kanzaki A, Yawata A, Yamada O, Yawata Y

Abstract excerpt

We studied mutations of the ankyrin-1 (ANK-1) gene of genomic DNA from Japanese patients with hereditary spherocytosis (HS). Forty-nine patients from 46 unrelated families were included in this study. Of these patients, 19 cases from 16 unrelated families had HS of autosomal-dominant inheritance, and 30 patients had non-autosomal-dominant HS. Fifteen mutations of the ANK-1 gene pathognomonic for HS were...

Read the complete abstract on PubMed

Topics

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

Share to Ankyrins
Share to Case-Control Studies
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Erythrocyte Membrane

Share to Family Health

Share to Membrane Glycoproteins

Share to Spherocytosis, Hereditary

Source

Identifiers

PMID: 11372755
DOI: 10.1007/BF02981903

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

Ankyrin gene mutations in japanese patients with hereditary spherocytosis.PMID 11372755Read ↗

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

Characteristic features of the genotype and phenotype of hereditary spherocytosis in the Japanese population.Semantic proximity Read ↗

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

Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis.Semantic proximity Read ↗

Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis.Semantic proximity Read ↗

Hematologically important mutations: ankyrin variants in 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 ↗

A de novo ANK1 mutation associated to hereditary spherocytosis: a case reportSemantic proximity Read ↗

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

Clinical characteristics of hereditary spherocytosis with red blood cell membrane protein gene variantsSemantic 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 and functional analysis of novel SPTB and ANK1 mutations in hereditary spherocytosis patients.Semantic proximity Read ↗

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