Article
Factor IX Chongqing: a new mutation in the calcium-binding domain of factor IX resulting in severe hemophilia B.
Thrombosis and haemostasis - 19 Feb 1990
Wang N S, Zhang M, Thompson A R, Chen S H
Abstract excerpt
A Chinese patient with sporadic, severe hemophilia B was found to have a low level of total factor IX antigen (3.5 U/dl), but less apparent antigen in an assay using a calcium-dependent antibody fraction (1.1 U/dl). This suggested a defect in the factor IX Gla domain coded mainly by exon 2 of the factor IX gene. Exon 2 was therefore amplified and sequenced. An A to T substitution was found at nucleotide 6455 of...
Topics
- Amino Acid Sequence
- Base Sequence
- Calcium-Binding Proteins
- Child
- Exons
- Factor IX
- Hemophilia B
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Protein Conformation