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Article

F9 mRNA splicing aberration due to a deep Intronic structural variation in a patient with moderate hemophilia B.

Thrombosis research - 1 May 2022

Odaira Koya, Kawashima Fumika, Tamura Shogo, Suzuki Nobuaki, Tokoro Mahiru, Hayakawa Yuri, Suzuki Atsuo, Kanematsu Takeshi, Okamoto Shuichi, Takagi Akira, Katsumi Akira, Matsushita Tadashi, Shima Midori, Nogami Keiji, Kojima Tetsuhito, Hayakawa Fumihiko

Abstract excerpt

INTRODUCTION: Hemophilia B (HB) is a hereditary bleeding disorder caused by the genetic variation of the coagulation factor IX (FIX) gene (F9). Several F9 structural abnormalities, including large deletion and/or insertion, have been observed to cause HB development. However, there is limited information available on F9 deep intronic variations. In this study, we report about a novel large deletion/insertion...

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PMID: 35313235
DOI: 10.1016/j.thromres.2022.03.010

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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