Literature DB >> 19456877

Discordant haemophilia A in male siblings due to a de novo mutation on a familial missense mutant allele.

A Kentsis, R Anewalt, A Ganguly, J B Allen, E J Neufeld.   

Abstract

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Year:  2009        PMID： 19456877      PMCID： PMC5774866          DOI： 10.1111/j.1365-2516.2009.02035.x

Source DB:  PubMed          Journal:  Haemophilia        ISSN： 1351-8216            Impact factor:   4.287


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  9 in total

1.  The rate of spontaneous mutation of a human gene. 1935.

Authors:  J B S Haldane
Journal:  J Genet       Date:  2004-12       Impact factor: 1.166

2.  Female hemophilia A heterozygous for a de novo frameshift and a novel missense mutation of factor VIII.

Authors:  X-H Cai; X-F Wang; J Dai; Y Fang; Q-L Ding; F Xie; H-L Wang
Journal:  J Thromb Haemost       Date:  2006-06-27       Impact factor: 5.824

3.  Inversion of intron 22 in isolated cases of severe hemophilia A.

Authors:  E F Tizzano; M Domènech; M Baiget
Journal:  Thromb Haemost       Date:  1995-01       Impact factor: 5.249

4.  CG dinucleotide transitions in the factor IX gene account for about half of the point mutations in hemophilia B patients: a Seattle series.

Authors:  S H Chen; M Zhang; E W Lovrien; C R Scott; A R Thompson
Journal:  Hum Genet       Date:  1991-06       Impact factor: 4.132

5.  Two mutations of the factor IX gene including a donor splice consensus deletion and a point mutation in a Dutch patient with severe hemophilia B.

Authors:  S R Poort; E Briët; R M Bertina; P H Reitsma
Journal:  Thromb Haemost       Date:  1990-11-30       Impact factor: 5.249

Review 6.  Severe haemophilia A in a female resulting from an inherited gross deletion and a de novo codon deletion in the F8 gene.

Authors:  A Venceslá; P Fuentes-Prior; M Baena; M Quintana; M Baiget; E F Tizzano
Journal:  Haemophilia       Date:  2008-07-25       Impact factor: 4.287

7.  Severe haemophilia A in a female resulting from two de novo factor VIII mutations.

Authors:  S Windsor; A Lyng; S A Taylor; B M Ewenstein; E J Neufeld; D Lillicrap
Journal:  Br J Haematol       Date:  1995-08       Impact factor: 6.998

8.  Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells.

Authors:  J P Rossiter; M Young; M L Kimberland; P Hutter; R P Ketterling; J Gitschier; J Horst; M A Morris; D J Schaid; P de Moerloose
Journal:  Hum Mol Genet       Date:  1994-07       Impact factor: 6.150

9.  Female monozygotic twins discordant for hemophilia A due to nonrandom X-chromosome inactivation.

Authors:  Carolyn M Bennett; Eileen Boye; Ellis J Neufeld
Journal:  Am J Hematol       Date:  2008-10       Impact factor: 10.047
  9 in total
  3 in total

1.  Haemophilia A: the consequences of de novo mutations. Two case reports.

Authors:  Federica Zarrilli; Antonio Coppola; Michele Schiavulli; Ernesto Cimino; Ausilia Elce; Giuseppe Rescigno; Giuseppe Castaldo; Felice Amato
Journal:  Blood Transfus       Date:  2017-04-05       Impact factor: 3.443

Review 2.  Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Authors:  David N Cooper; Michael Krawczak; Constantin Polychronakos; Chris Tyler-Smith; Hildegard Kehrer-Sawatzki
Journal:  Hum Genet       Date:  2013-07-03       Impact factor: 4.132

3.  Specific and global coagulation tests in patients with mild haemophilia A with a double mutation (Glu113Asp, Arg593Cys).

Authors:  Alenka Trampuš Bakija; Maruša Debeljak; Irena Preložnik Zupan; Majda Benedik Dolničar; Jernej Kovač; Janez Jazbec
Journal:  Blood Transfus       Date:  2015-05-15       Impact factor: 3.443
  3 in total

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