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Functional Characterization of Two Novel Intron 4 SERPING1 Gene Splice Site Pathogenic Variants in Families with Hereditary Angioedema.
Biomedicines. 2023 Dec 28;12(1):72. doi: 10.3390/biomedicines12010072.
Biomedicines. 2023.
PMID: 38255179
Free PMC article.
In the current study, we present the results of functional analysis of two previously non-described variants in the SERPING1 gene (NM_000062.3) affecting intron 4: c.686-1G>A and c.685+4dup, which were detected in members of two Russian families with autosomal dominant …
In the current study, we present the results of functional analysis of two previously non-described variants in the SERPING1 gene (NM_000062 …
The Effect of Complex Alleles of the CFTR Gene on the Clinical Manifestations of Cystic Fibrosis and the Effectiveness of Targeted Therapy.
Krasnova M, Efremova A, Bukhonin A, Zhekaite E, Bukharova T, Melyanovskaya Y, Goldshtein D, Kondratyeva E.
Krasnova M, et al.
Int J Mol Sci. 2023 Dec 21;25(1):114. doi: 10.3390/ijms25010114.
Int J Mol Sci. 2023.
PMID: 38203285
Free PMC article.
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