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Haemophilia B caused by a missense mutation in the prepeptide sequence of factor IX

✍ Scribed by P. M. Green; V. E. Mitchell; A. McGraw; E. Goldman; F. Giannelli

Publisher: John Wiley and Sons
Year: 1993
Tongue: English
Weight: 457 KB
Volume: 2
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1380020207

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✦ Synopsis

In the course of analysing mutation in the factor IX gene from 200 haemophilia B patients in Sweden and the UK, we have identified one patient with a prepeptide missense mutation. He has severe, antigen negative haemophilia, and complete analysis of his coding sequence reveals a single base transversion (A-->T) causing substitution of isoleucine by asparagine at position -30. This change disrupts the hydrophobic core of the prepeptide, a feature which is required for secretion. Thus, haemophilia in this patient is caused by a failure to secrete factor IX from the hepatocytes.

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