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Article

Expression and Characterization of Gly-317 Variants of Factor IX Causing Variable Bleeding in Hemophilia B Patients.

Biochemistry - 23 Jun 2015

Lu Qiuya, Yang Likui, Manithody Chandrashekhara, Wang Xuefeng, Rezaie Alireza R

Abstract excerpt

We recently identified two hemophilia B patients who carried Gly-317 to Arg (FIX-G317R) or Gly-317 to Glu (FIX-G317E) substitutions in their FIX gene. The former mutation caused severe and the latter moderate bleeding in afflicted patients. To understand the molecular basis for the variable clinical manifestation of Gly-317 mutations, we prepared recombinant G317R and G317E derivatives of FIX and compared their...

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Identifiers

PMID: 26023895
DOI: 10.1021/acs.biochem.5b00270
PMCID: PMC4479981

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Source receipt: pubmed, retrieved 7 Sept 2026.

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