ArticlePediatric pulmonology2017
Differences in gene mutations between Chinese and Caucasian cystic fibrosis patients.
Article in Pediatric pulmonology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 citations in OpenAlex.
- Clinical and genetic characteristics of cystic fibrosis in CHINESE patients: a systemic review of reported cases.Orphanet journal of rare diseases · 2018Pooled it
- Mutation characterisation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in people with cystic fibrosis in Northern Ireland.The Ulster medical journal · 2025Article
- The globalization of cystic fibrosis care.Current opinion in pediatrics · 2025Review
- The CFTR K464N variant in fetuses potential increases premature birth risk in Chinese families.Human genomics · 2025Article
- The Pharmacokinetic Changes in Cystic Fibrosis Patients Population: Narrative Review.Medicines (Basel, Switzerland) · 2024Review
- Unequal global implementation of genomic newborn screening.Nature reviews. Genetics · 2023Article
- A comprehensive review of cystic fibrosis in Africa and Asia.Saudi journal of biological sciences · 2023Review
- Pathogenic Variants Spectrum and Allele Frequency of theAllergy, asthma & immunology research · 2022Article
- Genetic spectrum of Chinese children with cystic fibrosis: comprehensive data analysis from the main referral centre in China.Journal of medical genetics · 2022Article
- Racially equitable diagnosis of cystic fibrosis using next-generation DNA sequencing: a case report.BMC pediatrics · 2021Article
- Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data.American journal of human genetics · 2020Article
- Identification of a Mutation in the Novel Compound Heterozygous CFTR in a Chinese Family with Cystic Fibrosis.Canadian respiratory journal · 2020Article
- c.753_754delAG, a novelWorld journal of clinical cases · 2019Article
- Innovative Therapies for Cystic Fibrosis: The Road from Treatment to Cure.Molecular diagnosis & therapy · 2019Review
- Liver Failure in a Chinese Cystic Fibrosis Child With Homozygous R553X Mutation.Frontiers in pediatrics · 2019Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cystic fibrosis (CF) is rarely seen in Asian populations. We diagnosed two CF cases. One of them had a novel mutation c.870-1G>C in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. There have been 38 Chinese CF patients reported in literature from 1974 until the present (2016), 25 different mutations were identified. Only one of these mutations (R553X) is in the Caucasian CF screening panel. The mutations identified in Chinese CF patients are very different from the common Caucasian gene mutations. The CFTR gene mutation spectrum for the Chinese population requires further investigation. Pediatr Pulmonol. 2017;52:E11-E14. © 2016 The Authors. Pediatric Pulmonology Published by Wiley Periodicals, Inc.
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