Publications:

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

Turkish Journal Of Haematology : Official Journal Of Turkish Society Of Haematology

Atik, Tahir T; Işık, Esra E; Onay, Hüseyin H; Akgün, Bilçağ B; Shamsali, Moharram M; Kavaklı, Kaan K; Evim, Melike M; Tüysüz, Gülen G; Özbek, Namık Yaşar NY; Şahin, Fahri F; Salcıoğlu, Zafer Z; Albayrak, Canan C; Oymak, Yeşim Y; Ünal, Ekrem E; Belen, Fatma Burcu FB; Yılmaz Keskin, Ebru E; Balkan, Can C; Baytan, Birol B; Küpesiz, Alphan A; Culha, Vildan V; Tahtakesen Güçer, Tuba Nur TN; Güneş, Adalet Meral AM; Özkınay, Ferda F

Publication Date: 2020-08-28

Variant appearance in text: F8: V2251A

PubMed Link: 32026663

Variant Present in the following documents:

• TJH-37-145.pdf

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Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity.

Scientific Reports

Marín, Òscar Ò; Aguirre, Josu J; de la Cruz, Xavier X

Publication Date: 2019-07-02

Variant appearance in text: F8: V2251A

PubMed Link: 31267011

Variant Present in the following documents:

• 41598_2019_45916_MOESM2_ESM.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: F8: V2251A

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

Plasma exchange and immunosuppressive therapy in a case of mild haemophilia A with inhibitors and a life-threatening lower limb haemorrhage.

Blood Transfusion = Trasfusione Del Sangue

Ambaglio, Chiara C; Lodo, Fabio F; Trinchero, Alice A; Ghidelli, Nicola N; Perotti, Cesare C; Del Fante, Claudia C; Gamba, Gabriella G

Publication Date: 2014-01

Variant appearance in text: FVIII: Val2251Ala

PubMed Link: 24553597

Variant Present in the following documents:

• Main text

View BVdb publication page