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CorrespondenceCorrespondence
Open Access

Insights and considerations on CFTR variant reporting in a study of cystic fibrosis patients in Saudi Arabia CFTR 1548del G and 1549del G

Navigating the discovery of novel mutations

Eman A. Al Abdulsalam
Saudi Medical Journal May 2024, 45 (5) 541; DOI: https://doi.org/10.15537/smj.2024.45.5.20240331
Eman A. Al Abdulsalam
Prince Sultan Military Medical City, Center for Health Studies, Riyadh, Kingdom of Saudi Arabia
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References

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    1. Almaghamsi T,
    2. Attiyah WB,
    3. Bahasan M,
    4. Alotaibi BA,
    5. AlAhmadi SF,
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    Identification of cystic fibrosis transmembrane conductance regulator gene (CFTR) variants: A retrospective study on the western and southern regions of Saudi Arabia. Saudi Med J 2023; 44: 987–994.
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    1. Wahab AA,
    2. Al Thani G,
    3. Dawod ST,
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    Heterogeneity of the cystic fibrosis phenotype in a large kindred family in Qatar with cystic fibrosis mutation (I1234V). J Trop Pediatr 2001; 47: 110–112.
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    1. Banjar H,
    2. Kambouris M,
    3. Meyer BF
    , al-Mehaidib A, Mogarri I. Geographic distribution of cystic fibrosis transmembrane regulator gene mutations in Saudi Arabia. Ann Trop Paediatr 1999; 19: 69–73.
    OpenUrlCrossRefPubMed
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Saudi Medical Journal: 45 (5)
Saudi Medical Journal
Vol. 45, Issue 5
1 May 2024
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Insights and considerations on CFTR variant reporting in a study of cystic fibrosis patients in Saudi Arabia CFTR 1548del G and 1549del G
Eman A. Al Abdulsalam
Saudi Medical Journal May 2024, 45 (5) 541; DOI: 10.15537/smj.2024.45.5.20240331

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Insights and considerations on CFTR variant reporting in a study of cystic fibrosis patients in Saudi Arabia CFTR 1548del G and 1549del G
Eman A. Al Abdulsalam
Saudi Medical Journal May 2024, 45 (5) 541; DOI: 10.15537/smj.2024.45.5.20240331
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© 2025 Saudi Medical Journal Saudi Medical Journal is copyright under the Berne Convention and the International Copyright Convention.  Saudi Medical Journal is an Open Access journal and articles published are distributed under the terms of the Creative Commons Attribution-NonCommercial License (CC BY-NC). Readers may copy, distribute, and display the work for non-commercial purposes with the proper citation of the original work. Electronic ISSN 1658-3175. Print ISSN 0379-5284.

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