Double homozygous Cystic Fibrosis Transmembrane Regulator gene (CFTR) mutation: A case series and review of the literature
Open Access
- 18 August 2020
- journal article
- review article
- Published by Peertechz Publications Private Limited in Global Journal of Rare Diseases
- Vol. 5 (1), 015-021
- https://doi.org/10.17352/2640-7876.000023
Abstract
Double homozygous mutation with the presence of double mutations in each allele is a very rare phenomenon with only 2 reports that have described this phenomenon in the medical literature.Keywords
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