Molecular analysis of hemophilia B in Poland: 12 novel mutations of the factor IX gene.

Abstract:

:We examined the molecular basis of factor IX deficiency in 53 unrelated Polish patients with hemophilia B. Heteroduplex analysis and direct sequencing of polymerase chain reaction (PCR) products were applied to identify the gene defect. Forty-three different point mutations were detected in the factor IX gene of 47 patients. There were 29 missense mutations, 9 nonsense mutations, 4 splice site mutations and 1 point mutation in the promoter region. Twelve mutations were novel. The results of this study emphasize a very high degree of heterogeneity of hemophilia B.

journal_name

Acta Biochim Pol

journal_title

Acta biochimica Polonica

authors

Wulff K,Bykowska K,Lopaciuk S,Herrmann FH

subject

Has Abstract

pub_date

1999-01-01 00:00:00

pages

721-6

issue

3

eissn

0001-527X

issn

1734-154X

journal_volume

46

pub_type

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