Combined deficiency of factors V and VIII by chance coinheritance of parahaemophilia and haemophilia A, but not by mutations of either LMAN1 or MCFD2, in a Japanese family

Haemophilia. 2018 Jan;24(1):e13-e16. doi: 10.1111/hae.13360. Epub 2017 Oct 30.

Authors

S Suzuki¹, Y Nakamura¹, N Suzuki², T Yamazaki³, Y Takagi¹, S Tamura¹, A Takagi¹, T Kanematsu⁴, T Matsushita^{2

4}, T Kojima¹

Affiliations

¹ Department of Pathophysiological Laboratory Science, Nagoya University Graduate School of Medicine, Nagoya, Japan.
² Department of Transfusion Medicine, Nagoya University Hospital, Nagoya, Japan.
³ Aichi-Sannomaru Hospital, Nagoya, Japan.
⁴ Department of Clinical Laboratory, Nagoya University Hospital, Nagoya, Japan.

PMID: 29082580
DOI: 10.1111/hae.13360

No abstract available

Publication types

Letter

MeSH terms

Adult
Base Sequence
Factor V Deficiency / genetics*
Female
Hemophilia A / genetics*
Humans
Japan
Male
Mannose-Binding Lectins / genetics*
Membrane Proteins / genetics*
Middle Aged
Mutation*
Pedigree*
Vesicular Transport Proteins / genetics*

Substances

LMAN1 protein, human
MCFD2 protein, human
Mannose-Binding Lectins
Membrane Proteins
Vesicular Transport Proteins