ArticleIndian journal of clinical biochemistry : IJCB2010
Molecular basis of cystic fibrosis disease: an Indian perspective.
Article in Indian journal of clinical biochemistry : IJCB, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 34 citations in OpenAlex.
- Clinical Profile of Cystic Fibrosis in India: A Multi-Centric Prospective Study.Journal of paediatrics and child health · 2026Article
- From past to progress: a retrospective study on CFTR genetic testing in South Africa.Journal of community genetics · 2025Article
- When 25% Feels Like 100%: Confronting Recurrent Cystic Fibrosis Risk Across Consecutive Pregnancies.Cureus · 2025Article
- Mutation characterisation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in people with cystic fibrosis in Northern Ireland.The Ulster medical journal · 2025Article
- A comprehensive review of cystic fibrosis in Africa and Asia.Saudi journal of biological sciences · 2023Review
- Expert group recommendation on inhaled mucoactive drugs in pediatric respiratory diseases: an Indian perspective.Frontiers in pediatrics · 2023Review
- A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.Human mutation · 2021Article
- Cystic fibrosis transmembrane conductance regulator-related male infertility: Relevance of genetic testing & counselling in Indian population.The Indian journal of medical research · 2020Article
- Targeted mutation screening panels expose systematic population bias in detection of cystic fibrosis risk.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- Higher sweat chloride levels in patients with asthma: a case-control study.Indian journal of pediatrics · 2015Article
- Multi-country estimate of different manifestations of aspergillosis in cystic fibrosis.PloS one · 2014Article
- Association of CFTR gene mutation with bronchial asthma.The Indian journal of medical research · 2012Review
- Atypical Presentation of Cystic Fibrosis in An Infant.Indian journal of dermatologyArticle
- Clinical and laboratory profile of children with Cystic Fibrosis: Experience of a tertiary care center in Pakistan.Pakistan journal of medical sciencesArticle
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Authors and funding
3 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cystic fibrosis is a common autosomal recessive disorder usually found in population of white Caucasian descent. Now it is well documented the presence of CF disease in India with the advancement of laboratory testing. As once it was thought non existence of this disease in our population. Most of the phenotype of CF disease was in accordance of western population. Genetic analysis of CFTR gene in Indian CF patients revealed that most common mutation was delta F508 mutation. However, it was less than Caucasian population. CFTR mutations are also a causative factor in the pathogenesis of male infertility due to obstructive azoospermia. There are two most common mutation viz. IVS8-T5 and delta F508 which are responsible for congenital absence of vas deferens in male infertility patients. Elevated levels of sweat chloride at two occasions along with the presence of two mutations in CFTR gene was gold standard method for diagnosis of CF disease. It is noteworthy here that due to magnitude of Indian population, the total CF disease load would be more than many European countries. Clinical data demonstrate the prevalence of both classical and genetic form of CF in India.
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