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

Reporting Two Novel Mutations in Two Iranian Families with Cystic Fibrosis, Molecular and Bioinformatic Analysis

Iranian biomedical journal - 1 Nov 2022

Hosseini Nami Amin, Kabiri Mahboubeh, Zeinali Sirous

Abstract excerpt

Background: Cystic fibrosis (CF) is the most common heredity disease among the Caucasian population. More than 350 known pathogenic variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene (NM_000492.4) cause CF. Herein, we report the outcome of our investigation in two unrelated Iranian families with CF patients. Methods: We conducted phenotypic examination, segregation, linkage...

Read the complete abstract on PubMed

Topics

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

Share to Computational Biology
Share to Cystic Fibrosis
Share to Cystic Fibrosis Transmembrane Conductance Regulator

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 35468710
DOI: 10.52547/ibj. 3713
PMCID: PMC9763878

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Reporting Two Novel Mutations in Two Iranian Families with Cystic Fibrosis, Molecular and Bioinformatic AnalysisPMID 35468710Read ↗

Novel CFTR Mutations in Two Iranian Families with Severe Cystic Fibrosis.Semantic proximity Read ↗

Analysis of the CFTR gene in Iranian cystic fibrosis patients: identification of eight novel mutations.Semantic proximity Read ↗

A haplotype framework for cystic fibrosis mutations in Iran.Semantic proximity Read ↗

Mutation and new polymorphisms insight in introns 11 to 14a of CFTR gene of northern Iranian cystic fibrosis patients.Semantic proximity Read ↗

Molecular Diagnosis and Genetic Counseling of Cystic Fibrosis and Related Disorders: New Challenges.Semantic proximity Read ↗

Cystic Fibrosis: A Review of Associated Phenotypes, Use of Molecular Diagnostic Approaches, Genetic Characteristics, Progress, and Dilemmas.Semantic proximity Read ↗

Mutations of the CFTR gene and novel variants in Turkish patients with cystic fibrosis: 24-years experience.Semantic proximity Read ↗

A Chinese Pediatric cystic fibrosis patient with the c.1624G>T, p. Gly542x / c.223C>T, p. Arg75x genotypeSemantic proximity Read ↗

Characterization of more than 85% of cystic fibrosis alleles in the Greek population, including five novel mutations.Semantic proximity Read ↗

Identification and in silico structural analysis for the first de novo mutation in the cystic fibrosis transmembrane conductance regulator protein in Iran: case report and developmental insight using microsatellite markers.Semantic proximity Read ↗

Molecular analysis in Brazilian cystic fibrosis patients reveals five novel mutations.Semantic proximity Read ↗

Cystic fibrosis mutations and associated haplotypes in Turkish cystic fibrosis patients.Semantic proximity Read ↗

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