Spectrum of Causative Mutations in Patients with Hemophilia A in Russia

Hemophilia A (HA) is one of the most widespread, X-linked, inherited bleeding disorders, which results from defects in the F8 gene. Nowadays, more than 3500 different pathogenic variants leading to HA have been described. Mutation analysis in HA is essential for accurate genetic counseling of patien...

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Detalles Bibliográficos
Autores principales: Pshenichnikova, Olesya, Salomashkina, Valentina, Poznyakova, Julia, Selivanova, Daria, Chernetskaya, Daria, Yakovleva, Elena, Dimitrieva, Oksana, Likhacheva, Elena, Perina, Farida, Zozulya, Nadezhda, Surin, Vadim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9957479/
https://www.ncbi.nlm.nih.gov/pubmed/36833187
http://dx.doi.org/10.3390/genes14020260

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9957479/
https://www.ncbi.nlm.nih.gov/pubmed/36833187
http://dx.doi.org/10.3390/genes14020260

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