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

Allele frequency of a 24 bp duplication in exon 10 of the CHIT1 gene in the general Korean population and in Korean patients with Gaucher disease.

Journal of human genetics - 1 May 2014

Woo Kyu Ha, Lee Beom Hee, Heo Sun Hee, Kim Jae-Min, Kim Gu-Hwan, Kim Yoo-Mi, Kim Ja Hye, Choi In-Hee, Yang Song Hyun, Yoo Han-Wook

Abstract excerpt

Plasma chitotriosidase activity is used for diagnosis and monitoring of Gaucher disease. However, homozygous duplication of a 24 bp region in exon 10 of the chitotriosidase gene (CHIT1) abolishes enzyme activity, limiting its use as a biomarker in Gaucher disease. This study investigates the allele frequency of the 24 bp duplication, in both the general Korean population and in patients with Gaucher disease....

Read the complete abstract on PubMed

Topics

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

Share to Asian People
Share to Enzyme Activation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Enzyme Replacement Therapy

Share to Gaucher Disease

Share to Hexosaminidases

Share to Infant

Share to Republic of Korea

Source

Identifiers

PMID: 24621582
DOI: 10.1038/jhg.2014.16

Genes

CHIT1

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

Allele frequency of a 24 bp duplication in exon 10 of the CHIT1 gene in the general Korean population and in Korean patients with Gaucher disease.PMID 24621582Read ↗

Allelic Frequency of a 24-bp Duplication in Exon 10 of the CHIT1 Gene in the General Iranian Population.Semantic proximity Read ↗

Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring.Semantic proximity Read ↗

Allelic frequency determination of the 24-bp chitotriosidase duplication in the Portuguese population by real-time PCR.Semantic proximity Read ↗

Human chitotriosidase polymorphisms G354R and A442V associated with reduced enzyme activity.Semantic proximity Read ↗

Chitotriosidase deficiency in the Cypriot population: Identification of a novel deletion in the CHIT1 gene.Semantic proximity Read ↗

Chitotriosidase activity as additional biomarker in the diagnosis of lysosomal storage diseases.Semantic proximity Read ↗

Common chitotriosidase duplication gene polymorphism and clinical outcome status in sarcoidosis.Semantic proximity Read ↗

Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in IndiaSemantic proximity Read ↗

Chitotriosidase genotype and plasma activity in patients type 1 Gaucher's disease and their relatives (carriers and non carriers).Semantic proximity Read ↗

CHIT1 genetic defects in the Portuguese population.Semantic proximity Read ↗

Association of 24 bp duplication of human CHIT1 gene with asthma in a heterozygous population of north India: a case-control study.Semantic proximity Read ↗

Chitotriosidase gene polymorphisms and mutations limit the determination of chitotriosidase expression in sarcoidosis.Semantic proximity Read ↗

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