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

作者信息

Green P M, Mitchell V E, McGraw A, Goldman E, Giannelli F

机构信息

Paediatric Research Unit, UMDS, Guy's Hospital, London, United Kingdom.

出版信息

Hum Mutat. 1993;2(2):103-7. doi: 10.1002/humu.1380020207.

DOI:10.1002/humu.1380020207
PMID:8318985
Abstract

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.

摘要

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