Factor 8 Gene Mutation Spectrum of 270 Patients with Hemophilia A: Identification of 36 Novel Mutations

Autor: Tahir Atik, Esra Işık, Hüseyin Onay, Bilçağ Akgün, Moharram Shamsali, Kaan Kavaklo, Melike Evim, Gülen Tüysüz, Namık Yaşar Özbek, Fahri Şahin, Zafer Salcıoğlu, Canan Albayrak, Yeşim Oymak, Ekrem Ünal, Fatma Burcu Belen, Ebru Yılmaz Keskin, Can Balkan, Birol Baytan, Alphan Küpesiz, Vildan Culha, Tuba Nur Tahtakesen, Adalet Meral Güneş, Ferda Özkınay

Publikováno v: Turkish Journal of Hematology, Vol 37, Iss 3, Pp 145-153 (2020)

Objective: Hemophilia A (HA) is the most severe X-linked inherited bleeding disorder caused by hemizygous mutations in the factor 8 (F8) gene. The aim of this study is to determine the mutation spectrum of the F8 gene in a large HA cohort from Turkey

Externí odkaz: https://doaj.org/article/739b1796010f4465a28442c9b6243a1b

Factor 8 Gene Mutation Spectrum of 270 Patients with Hemophilia A: Identification of 36 Novel Mutations

Autor: Fahri Şahin, Ekrem Unal, Birol Baytan, Fatma Burcu Belen, Ferda Ozkinay, Yeşim Oymak, Vildan Çulha, Gülen Tüysüz, Adalet Meral Güneş, Kaan Kavakli, Bilçağ Akgün, Melike Sezgin Evim, Namik Ozbek, Alphan Kupesiz, Tahir Atik, Esra Isik, Hüseyin Onay, Moharram Shamsali, Can Balkan, Ebru Yılmaz Keskin, Zafer Salcioglu, Canan Albayrak, Tuba Nur Tahtakesen Güçer

Publikováno v: Turkish Journal of Hematology
Turkish Journal of Hematology, Vol 37, Iss 3, Pp 145-153 (2020)

Objective Hemophilia A (HA) is the most severe X-linked inherited bleeding disorder caused by hemizygous mutations in the factor 8 (F8) gene. The aim of this study is to determine the mutation spectrum of the F8 gene in a large HA cohort from Turkey,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0df3de9d9ceb05d09504bab5835f685
http://europepmc.org/articles/PMC7463214

Identification of a novel mutation in the factor VIII gene causing severe haemophilia A

Autor: Trine H. Mogensen, Alex Lund Laursen, Sara K. Nissen, L. H. Poulsen

Publikováno v: BMC Hematology, Vol 18, Iss 1, Pp 1-4 (2018)
BMC Hematology
Nissen, S K, Laursen, A L, Poulsen, L H & Mogensen, T H 2018, ' Identification of a novel mutation in the factor VIII gene causing severe haemophilia A ', BMC Hematology, vol. 18, pp. 17 . https://doi.org/10.1186/s12878-018-0113-4

Background Deficiency in coagulation factor VIII encoded by F8 results in the X-linked recessive bleeding disorder haemophilia A (HEMA). Here we describe the identification of a novel variant in the factor VIII gene, F8, in an adult male patient with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fef14e14625b2e3e6b2272a1fea85d01
http://link.springer.com/article/10.1186/s12878-018-0113-4

Effects of Treatment Model on Bone Metabolism in Patients with Severe Hemophilia A.

Autor: Akyol, Şefika¹ drsefikaakyol@gmail.com, Göktepe, Şerife Şebnem Önen¹, Akgün, Ayşegül², Balkan, Can³

Publikováno v: Journal of Pediatric Academy (J. Pediatr. Acad.). 2024, Vol. 5 Issue 3, p88-92. 5p.

Comprehensive Screening of Genetic Variants in the Coding Region of F8 in Severe Hemophilia A Reveals a Relationship with Disease Severity in a Colombian Cohort.

Autor: Sarmiento Doncel, Samuel^1,2,3 (AUTHOR) ssarmiento@integralsolutionssd.com, Peláez, Ronald Guillermo² (AUTHOR), Lapunzina, Pablo^4,5,6 (AUTHOR), Corrales-Medina, Fernando F.^7,8 (AUTHOR), Díaz Mosquera, Gina Alejandra¹ (AUTHOR), Bonanad, Santiago⁹ (AUTHOR), Cortes, Javier Mauricio¹ (AUTHOR), Cazalla, Mario^4,5 (AUTHOR), Gallego, Natalia^4,5,6 (AUTHOR), Querol-Giner, Felipe¹⁰ (AUTHOR), Tenorio, Jair^4,5,6,11 (AUTHOR), López Guerrero, José A.^3,12,13 (AUTHOR)

Publikováno v: Life (2075-1729). Aug2024, Vol. 14 Issue 8, p1041. 14p.