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Article

Point mutations in four hemophilia B patients from China.

Thrombosis and haemostasis - 22 Oct 1990

Wang N S, Chen S H, Thompson A R

Abstract excerpt

Point mutations in factor IX genes of four unrelated Chinese patients with hemophilia B have been identified by direct sequencing of amplified genomic DNA fragments. These four mutations occur in exon 8 of the factor IX gene. A C to T transition at nucleotide 30,863 changes codon 248 from Arg (CGA) to a new Stop codon (TGA), described in a previous family as factor IXMalmo3 (Green P M et al., EMBO J 1989; 8:...

Topics

Amino Acid Sequence
Base Sequence
Child
China
DNA Mutational Analysis
Exons
Factor IX
Female
Hemophilia B
Humans
Male
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Source

Identifiers

PMID: 2270538

Genes

CGA
GAA
GCA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2270538-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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