Mutation Analysis of the CFTR Gene in 225 Children: Identification of Five Novel Severe and Seven Reported Severe Mutations-Reference-Cited by-同舟云学术

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Mutation Analysis of the CFTR Gene in 225 Children: Identification of Five Novel Severe and Seven Reported Severe Mutations

Published:2012-07 Issue:7 Volume:16 Page:798-801
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Sachdeva Kabir¹,Saxena Renu²,Puri Ratna³,Bijarnia Sunita³,Kohli Sudha³,Verma Ishwar Chander³

Affiliation:

1. Research Scientist Triesta Laboratory, HCG Hospital, Sampangi Ram Nagar, Bangalore, India.

2. Molecular Genetics Laboratory, Sir Ganga Ram Hospital, Guru Gobind Singh Indraprastha University, Kashmere Gate, New Delhi, India.

3. Centre of Medical Genetics, Sir Ganga Ram Hospital, Guru Gobind Singh Indraprastha University, Kashmere Gate, New Delhi, India.

Publisher

Mary Ann Liebert Inc

Subject

Genetics (clinical),General Medicine

Link

http://www.liebertpub.com/doi/pdf/10.1089/gtmb.2011.0283

Reference28 articles.

1. Analysis of the complete coding region of the CFTR gene in a cohort of CF patients from North-Eastern Italy: identification of 90% of the mutations

2. First report of CFTR mutations in black cystic fibrosis patients of southern African origin.

3. Direct sequencing of the complete CFTR gene: the molecular characterisation of 99.5% of CF chromosomes in Wales

4. Mutation analysis in 600 French cystic fibrosis patients.

5. Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in Southern France

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1. Earth Mover’s Distance-Based Automated Disease Tagging of Indian ECGs;Lecture Notes in Networks and Systems;2022-11-10

2. CFTR genotype analysis of Asians in international registries highlights disparities in the diagnosis and treatment of Asian patients with cystic fibrosis;Genetics in Medicine;2022-10

3. Racially equitable diagnosis of cystic fibrosis using next-generation DNA sequencing: a case report;BMC Pediatrics;2021-03-31

4. 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;2021-03

5. NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results – a pilot study;BMC Medical Genetics;2020-11-02

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