Identification of two novel mutations in non-Jewish factor XI deficiency.

doi:10.1111/j.1365-2141.1995.tb05215.x

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Article

Identification of two novel mutations in non-Jewish factor XI deficiency.

British journal of haematology - 1 Aug 1995

Imanaka Y, Lal K, Nishimura T, Bolton-Maggs P H, Tuddenham E G, McVey J H

Abstract excerpt

We have studied two heterozygous unrelated CRM- non-Jewish FXI-deficient patients. Neither of the patients carries a previously described mutation. Their FXI genes were screened by SSCP analysis following PCR amplification of each exon and the flanking intronic sequences. DNA fragments showing ab...

Topics

Adult
Base Sequence
Blood Coagulation
DNA Mutational Analysis
Exons
Factor XI
Factor XI Deficiency
Female
Humans
Male
Middle Aged
Molecular Sequence Data
Mutation
Pedigree
Polymorphism, Genetic

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