Parental origin of factor IX gene mutations, and their distribution in the gene.

Article

Parental origin of factor IX gene mutations, and their distribution in the gene.

American journal of human genetics - 1 Jan 1992

Ludwig M, Grimm T, Brackmann H H, Olek K

Abstract excerpt

Genomic amplification followed by direct sequencing enabled us to establish the causative mutation in 67 unrelated hemophilia B patients of predominantly German origin. With the detection of the mutation, extensive pedigree analysis has become feasible. We therefore anticipated that determination...

Topics

Factor IX
Female
Hemophilia B
Humans
Male
Mutation
Pedigree
Polymorphism, Restriction Fragment Length
Promoter Regions, Genetic

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