Literature DB >> 8578479

Molecular genetics of coagulation factor VIII gene and hemophilia A.

S E Antonarakis1.   

Abstract

This review summarizes the structure of human coagulation factor VIII gene and its deduced protein sequence and the molecular etiology of hemophilia A in man. The gross DNA rearrangements including the common inversions of factor VIII (which account for about 45% of severe hemophilia A patients), and the point mutations are discussed. The functional consequences of certain missense mutations are illustrated.

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Year:  1995        PMID： 8578479

Source DB:  PubMed          Journal:  Thromb Haemost        ISSN： 0340-6245            Impact factor:   5.249


  4 in total

Review 1.  Prevention of spontaneous bleeding in dogs with haemophilia A and haemophilia B.

Authors:  T C Nichols; R A Raymer; H W G Franck; E P Merricks; D A Bellinger; N DeFriess; P Margaritis; V R Arruda; M A Kay; K A High
Journal:  Haemophilia       Date:  2010-05       Impact factor: 4.287

Review 2.  Haemophilia A and haemophilia B: molecular insights.

Authors:  D J Bowen
Journal:  Mol Pathol       Date:  2002-04

Review 3.  Haemophilia A and haemophilia B: molecular insights.

Authors:  D J Bowen
Journal:  Mol Pathol       Date:  2002-02

4.  DNA methylation age is associated with an altered hemostatic profile in a multiethnic meta-analysis.

Authors:  Cavin K Ward-Caviness; Jennifer E Huffman; Karl Everett; Marine Germain; Jenny van Dongen; W David Hill; Min A Jhun; Jennifer A Brody; Mohsen Ghanbari; Lei Du; Nicholas S Roetker; Paul S de Vries; Melanie Waldenberger; Christian Gieger; Petra Wolf; Holger Prokisch; Wolfgang Koenig; Christopher J O'Donnell; Daniel Levy; Chunyu Liu; Vinh Truong; Philip S Wells; David-Alexandre Trégouët; Weihong Tang; Alanna C Morrison; Eric Boerwinkle; Kerri L Wiggins; Barbara McKnight; Xiuqing Guo; Bruce M Psaty; Nona Sotoodenia; Dorret I Boomsma; Gonneke Willemsen; Lannie Ligthart; Ian J Deary; Wei Zhao; Erin B Ware; Sharon L R Kardia; Joyce B J Van Meurs; Andre G Uitterlinden; Oscar H Franco; Per Eriksson; Anders Franco-Cereceda; James S Pankow; Andrew D Johnson; France Gagnon; Pierre-Emmanuel Morange; Eco J C de Geus; John M Starr; Jennifer A Smith; Abbas Dehghan; Hanna M Björck; Nicholas L Smith; Annette Peters
Journal:  Blood       Date:  2018-07-24       Impact factor: 22.113
  4 in total

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