A novel missense mutation, p.Phe360Cys, in FIX gene results in haemophilia B in a female patient with skewed X-inactivation

Haemophilia. 2018 Mar;24(2):e68-e70. doi: 10.1111/hae.13423. Epub 2018 Feb 5.

Authors

C Yang^{1

2}, Z Yu^{1

2}, W Zhang^{1

2}, L Cao^{1

2}, W Ouyang^{1

2}, F Hu^{1

2}, P Zhang^{1

2}, X Bai^{1

2}, C Ruan^{1

2}

Affiliations

¹ Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis/Ministry of Health, The First Affiliated Hospital of Soochow University, Suzhou, China.
² Collaborative Innovation Center of Hematology, Soochow University, Suzhou, China.

PMID: 29405493
DOI: 10.1111/hae.13423

No abstract available

Publication types

Letter

MeSH terms

Adult
Alleles*
Amino Acid Substitution*
Blood Coagulation
Blood Coagulation Tests
DNA Mutational Analysis
Factor IX / genetics*
Female
Genotype
Hemophilia B / diagnosis*
Hemophilia B / genetics*
Humans
Mutation, Missense*
X Chromosome Inactivation*

Substances

Factor IX