Dergiler / Turkish Journal of Hematology / 2017 / Cilt: 34 - Sayı: 3

Faktör VIII Geni İntron 1 İnversiyonunun 130 Pakistan’lı Ağır Hemofili A Hasta Grubunda Taranması

Screening of Intron 1 Inversion of the Factor VIII Gene in 130 Patients with Severe Hemophilia A from a Pakistani Cohort

Sayfa
91–92
Yayın Tarihi
2022-11-05
DOI
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Bu Makaleye Atıf Yap

MAHMOOD, S., SATTAR, A., ULLAH, M. I., MOHSİN, S., HUSSAİN, S. (2022). Faktör VIII Geni İntron 1 İnversiyonunun 130 Pakistan’lı Ağır Hemofili A Hasta Grubunda Taranması. Turkish Journal of Hematology, Cilt: 34 - Sayı: 3, 91–92. https://ajindex.com/articles/606797

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Kaynakça (8)

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  2. Pinto P, Ghosh K, Shetty S. F8 gene mutation profile in Indian hemophilia A patients: identification of 23 novel mutations and factor VIII inhibitor risk association. Mutat Res 2016;786:27-33
  3. Bowen DJ. Haemophilia A and haemophilia B: molecular insights. Mol Pathol 2002;55:1-18
  4. Sanna V, Ceglia C, Tarsitano M, Lombardo B, Coppola A, Zarrilli F, Castaldo G, Di Minno G. Aberrant F8 gene intron 1 inversion with concomitant duplication and deletion in a severe hemophilia a patient from southern Italy. J Thromb Haemost 2013;11:195-197
  5. Bagnall RD, Giannelli F, Green PM. Int22h-related inversions causing hemophilia A: a novel insight into their origin and a new more discriminant PCR test for their detection. J Thromb Haemost 2006;4:591-598
  6. Salviato R, Belvini D, Radossi P, Tagariello G. Factor VIII gene intron 1 inversion: lower than expected prevalence in Italian haemophiliac severe patients. Haemophilia 2004;10:194-196
  7. Tizzano EF, Cornet M, Baiget M. Inversion of intron 1 of the factor VIII gene for direct molecular diagnosis of hemophilia A. Haematologica 2003;88:118-120
  8. Andrikovics H, Klein I, Bors A, Nemes L, Marosi A, Váradi A, Tordai A. Analysis of large structural changes of the factor VIII gene, involving intron 1 and 22, in severe hemophilia A. Haematologica 2003;88:778-784.