Literature DB >> 13229969

[Congenital factor V deficiency (parahemophilia) with true hemophilia in two brothers].

J OERI, M MATTER, H ISENSCHMID, F HAUSER, F KOLLER.   

Abstract

Entities:  

Keywords:  HEMOPHILIA/complications; HEMORRHAGIC DIATHESIS

Mesh：

Year:  1954        PMID： 13229969

Source DB:  PubMed          Journal:  Bibl Paediatr        ISSN： 0301-357X


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  18 in total

Review 1.  From the ER to the golgi: insights from the study of combined factors V and VIII deficiency.

Authors:  W C Nichols; D Ginsburg
Journal:  Am J Hum Genet       Date:  1999-06       Impact factor: 11.025

2.  PARAPEMOPHILIA (CONGENITAL FACTOV V DEFICIENCY).

Authors:  C W BAUGH
Journal:  Can Med Assoc J       Date:  1965-05-01       Impact factor: 8.262

3.  Linkage of combined factors V and VIII deficiency to chromosome 18q by homozygosity mapping.

Authors:  W C Nichols; U Seligsohn; A Zivelin; V H Terry; N D Arnold; D R Siemieniak; R J Kaufman; D Ginsburg
Journal:  J Clin Invest       Date:  1997-02-15       Impact factor: 14.808

4.  Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2.

Authors:  Bin Zhang; Beth McGee; Jennifer S Yamaoka; Hugo Guglielmone; Katharine A Downes; Salvador Minoldo; Gustavo Jarchum; Flora Peyvandi; Norma B de Bosch; Arlette Ruiz-Saez; Bernard Chatelain; Marian Olpinski; Paula Bockenstedt; Wolfgang Sperl; Randal J Kaufman; William C Nichols; Edward G D Tuddenham; David Ginsburg
Journal:  Blood       Date:  2005-11-22       Impact factor: 22.113

Review 5.  Combined factors V and VIII deficiency climbs onto the map.

Authors:  J E Sadler
Journal:  J Clin Invest       Date:  1997-02-15       Impact factor: 14.808

6.  Congenital combined factor V and factor VIII deficiency in a male born from a brother-sister incest.

Authors:  A Girolami; A Brunetti; L De Marco
Journal:  Blut       Date:  1974-01

Review 7.  Genetics of human blood coagulation.

Authors:  C B Kerr
Journal:  J Med Genet       Date:  1965-12       Impact factor: 6.318

8.  Structural basis for the cooperative interplay between the two causative gene products of combined factor V and factor VIII deficiency.

Authors:  Miho Nishio; Yukiko Kamiya; Tsunehiro Mizushima; Soichi Wakatsuki; Hiroaki Sasakawa; Kazuo Yamamoto; Susumu Uchiyama; Masanori Noda; Adam R McKay; Kiichi Fukui; Hans-Peter Hauri; Koichi Kato
Journal:  Proc Natl Acad Sci U S A       Date:  2010-02-08       Impact factor: 11.205

Review 9.  Recent developments in the understanding of the combined deficiency of FV and FVIII.

Authors:  Bin Zhang
Journal:  Br J Haematol       Date:  2009-01-16       Impact factor: 6.998

10.  Deficiency of protein C inhibitor in combined factor V/VIII deficiency disease.

Authors:  R A Marlar; J H Griffin
Journal:  J Clin Invest       Date:  1980-11       Impact factor: 14.808
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