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

Detection of filaggrin gene mutation (2282del4) in Pakistani Ichthyosis vulgaris families.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP - 1 Jun 2011

Naz Naghma, Samdani Azam Jah

Abstract excerpt

The aim of this study was to detect an 811 bp filaggrin (FLG) gene fragment known to carry a mutation 2282del4 which causes ichthyosis vulgaris. Seven clinically examined ichthyosis vulgaris families were included in this study. An 811 bp FLG gene fragment was targeted in the genomic DNA of all the members of the seven families by PCR amplification using known primers RPT1P7 and RPT2P1. Successful amplification...

Read the complete abstract on PubMed

Topics

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

Share to Filaggrin Proteins
Share to FLG gene
Share to Intermediate Filament Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Pakistan

Share to Pedigree

Source

Identifiers

PMID: 21712002
DOI: 07.2011/JCPSP.382383

Genes

FLG

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

Detection of filaggrin gene mutation (2282del4) in Pakistani Ichthyosis vulgaris families.PMID 21712002Read ↗

Molecular studies of ichthyosis vulgaris in Pakistani families.Semantic proximity Read ↗

Filaggrin gene variants among Saudi patients with ichthyosis vulgaris.Semantic proximity Read ↗

Filaggrin gene polymorphisms in Iranian ichthyosis vulgaris and atopic dermatitis patientsSemantic proximity Read ↗

Filaggrin mutations are associated with ichthyosis vulgaris in the Bangladeshi population.Semantic proximity Read ↗

Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.Semantic proximity Read ↗

Identification of a genetic locus for ichthyosis vulgaris on chromosome 10q22.3-q24.2.Semantic proximity Read ↗

Novel FLG mutations associated with ichthyosis vulgaris in the Chinese population.Semantic proximity Read ↗

A new filaggrin gene mutation in a Korean patient with ichthyosis vulgaris.Semantic proximity Read ↗

An Analysis of the Filaggrin Gene Polymorphism in Korean Atopic Dermatitis Patients.Semantic proximity Read ↗

De Novo Occurrence of the Filaggrin Mutation p.R501X with Prevalent Mutation c.3321delA in a Japanese Family with Ichthyosis Vulgaris Complicated by Atopic DermatitisSemantic proximity Read ↗

Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis.Semantic proximity Read ↗

FLG mutations in ichthyosis vulgaris and atopic eczema: spectrum of mutations and population genetics.Semantic proximity Read ↗

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