CareLit · DOI-Nachweis · Zeitschrift für Orthopädie und Unfallchirurgie
Large deletions play a minor but essential role in congenital coagulation factor VII and X deficiencies
DOI 10.1055/s-0037-1619821
Bibliografische Angaben
Nachweis in CareLit
Autor:innenRath, M.; Najm, J.; Sirb, H.; Kentouche, K.; Dufke, A.; Pauli, S.; Hackmann, K.; Liehr, T.; Hübner, C.-A.; Felbor, U.
ZeitschriftZeitschrift für Orthopädie und Unfallchirurgie
AusgabeS 01/2015
Jahrgang / SeitenJg. 35 · S. S36-S42
Kernaussage aus der Literatur
Abstract-Vorschau
SummaryCongenital factor VII (FVII) and factor X (FX) deficiencies belong to the group of rare bleeding disorders which may occur in separate or combined forms since both the F7 and F10 genes are located in close proximity on the distal long arm of chromosome 13 (13q34). We here present data of 192 consecutive index cases with FVII and/or FX deficiency. 10 novel and 53 recurrent sequence alterations were identified…
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Zitierempfehlung
Rath, M.; Najm, J.; Sirb, H.; Kentouche, K.; Dufke, A.; Pauli, S.; Hackmann, K.; Liehr, T.; Hübner, C.-A.; Felbor, U (2015) Large deletions play a minor but essential role in congenital coagulation factor VII and X deficiencies. Zeitschrift für Orthopädie und Unfallchirurgie, 35 (S 01), S36-S42. https://doi.org/10.1055/s-0037-1619821
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