Factor IXAlabama: a point mutation in a clotting protein results in hemophilia B.

Abstract:

:Factor IXAlabama is a variant factor IX molecule responsible for a clinically moderate form of hemophilia B. Twenty-five kilobases (kb) of the variant gene, including seven exons coding for the structural protein, were cloned and characterized. The restriction map and the arrangement of coding regions are identical to those of the normal gene. DNA sequence analysis of the coding regions revealed a single base-pair difference between the gene for factor IXAlabama and the normal factor IX gene. An adenine to guanine transition in the first nucleotide of exon d causes the substitution of a glycine codon (GGT) for the normal aspartic acid codon (GAT). This point mutation results in a single amino acid substitution at residue 47 of the zymogen and represents the genetic defect in factor IXAlabama.

journal_name

Blood

journal_title

Blood

authors

Davis LM,McGraw RA,Ware JL,Roberts HR,Stafford DW

subject

Has Abstract

pub_date

1987-01-01 00:00:00

pages

140-3

issue

1

eissn

0006-4971

issn

1528-0020

journal_volume

69

pub_type

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