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

Green P. M. | Zendy; Mitchell V. E. | Zendy; McGraw A. | Zendy; Goldman E. | Zendy; Giannelli F. | Zendy

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

Author(s) -

Green P. M.,

Mitchell V. E.,

McGraw A.,

Goldman E.,

Giannelli F.

Publication year - 1993

Publication title -

human mutation

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.981

H-Index - 162

eISSN - 1098-1004

pISSN - 1059-7794

DOI - 10.1002/humu.1380020207

Subject(s) - missense mutation , haemophilia b , transversion , factor ix , mutation , biology , asparagine , haemophilia a , genetics , gene , haemophilia , microbiology and biotechnology , amino acid

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. © 1993 Wiley‐Liss, Inc.

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