Novel cystic fibrosis transmembrane conductance (CFTR) variant in a patient with Ghanaian parentage-Reference-Cited by-同舟云学术

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Novel cystic fibrosis transmembrane conductance (CFTR) variant in a patient with Ghanaian parentage

Published:2023-02-13 Issue:5 Volume:58 Page:1611-1613
ISSN:8755-6863
Container-title:Pediatric Pulmonology
language:en
Short-container-title:Pediatric Pulmonology

Author:

Wallace Kirsten¹^ORCID,Devenny Anne¹,Azam Tara²,Langley Ross J.¹³

Affiliation:

1. Department of Paediatric Respiratory and Sleep Medicine Royal Hospital for Children Glasgow UK

2. Department of Genetics, South East Scotland Genetic Service Western General Hospital Edinburgh Scotland

3. Women and Children's Health, School of Medicine, Dentistry and Nursing University of Glasgow Glasgow Scotland

Publisher

Wiley

Subject

Pulmonary and Respiratory Medicine,Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ppul.26350

Reference5 articles.

1. EllardS BapleEL BerryI et al. ACGS best practice guidelines for variant classification 2020: association for clinical genetics science (ACGS); 2020. Accessed February 10 2023.https://www.acgs.uk.com/quality/best-practice-guidelines/#VariantGuidelines

2. Cystic fibrosis: Toward personalized therapies

3. Cystic fibrosis on the African continent

4. The Spectrum of CFTR Variants in Nonwhite Cystic Fibrosis Patients

5. Phenotypic Presentations of Cystic Fibrosis in Children of African Descent

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