CG dinucleotide transitions in the factor IX gene account for about half of the point mutations in hemophilia B patients: a Seattle series.

doi:10.1007/BF00204177

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Article

CG dinucleotide transitions in the factor IX gene account for about half of the point mutations in hemophilia B patients: a Seattle series.

Human genetics - 1 Jun 1991

Chen S H, Zhang M, Lovrien E W, Scott C R, Thompson A R

Abstract excerpt

Hemophilia B is due to multiple molecular defects in the factor IX gene. Over 80% of mutations are single base substitutions. By amplification and direct sequencing, 51 single base substitutions were found in the transcribed sequence of the factor IX genes of patients from 50 distinct families wi...

Topics

Amino Acid Sequence
Base Sequence
Codon
Electrophoresis, Agar Gel
Exons
Factor IX
Haplotypes
Hemophilia B
Humans
Molecular Sequence Data
Mutation
Polymerase Chain Reaction

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