Literature DB >> 8076948

Germ line origins of de novo mutations in hemophilia B families.

A R Thompson1, S H Chen.   

Abstract

The germ line of origin for 13 of 14 de novo hemophilia B mutations has been determined. When added to previous reports, the origin, assuming no mosaicism, occurred in 43 female and 33 male gametes. Mutation rate estimates are twofold higher in males than in females. The pooled data also indicate that male and female germ lines have different mutation rates depending upon the type of mutation.

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Year:  1994        PMID: 8076948     DOI: 10.1007/bf00208288

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  20 in total

1.  Origin of mutation in sporadic cases of haemophilia-B.

Authors:  S Kling; R Ljung; E Sjörin; J Montandon; P Green; F Giannelli; I M Nilsson
Journal:  Eur J Haematol       Date:  1992-03       Impact factor: 2.997

2.  Recurrent nonsense mutations at arginine residues cause severe hemophilia B in unrelated hemophiliacs.

Authors:  D D Koeberl; C D Bottema; G Sarkar; R P Ketterling; S H Chen; S S Sommer
Journal:  Hum Genet       Date:  1990-04       Impact factor: 4.132

3.  Diagnostic role of an immunoassay-detected polymorphism of factor IX for potential carriers of hemophilia B.

Authors:  A R Thompson; S H Chen; K J Smith
Journal:  Blood       Date:  1988-11       Impact factor: 22.113

4.  Germ-line origins of mutation in families with hemophilia B: the sex ratio varies with the type of mutation.

Authors:  R P Ketterling; E Vielhaber; C D Bottema; D J Schaid; M P Cohen; C L Sexauer; S S Sommer
Journal:  Am J Hum Genet       Date:  1993-01       Impact factor: 11.025

5.  Five novel factor IX mutations in unrelated hemophilia B families.

Authors:  S H Chen; J M Schoof; C R Scott; A R Thompson
Journal:  Hum Mol Genet       Date:  1993-05       Impact factor: 6.150

6.  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

7.  The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease.

Authors:  U Francke; J Felsenstein; S M Gartler; B R Migeon; J Dancis; J E Seegmiller; F Bakay; W L Nyhan
Journal:  Am J Hum Genet       Date:  1976-03       Impact factor: 11.025

8.  Recurrent mutations in the factor IX gene: founder effect or repeat de novo events. Investigation of the German haemophilia B population and review of de novo mutations.

Authors:  O Knobloch; B Zoll; K Zerres; H H Brackmann; K Olek; M Ludwig
Journal:  Hum Genet       Date:  1993-08       Impact factor: 4.132

9.  Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency).

Authors:  S A Taylor; K V Deugau; D P Lillicrap
Journal:  Proc Natl Acad Sci U S A       Date:  1991-01-01       Impact factor: 11.205

10.  Parental origin of factor IX gene mutations, and their distribution in the gene.

Authors:  M Ludwig; T Grimm; H H Brackmann; K Olek
Journal:  Am J Hum Genet       Date:  1992-01       Impact factor: 11.025

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  2 in total

1.  Haemophilia B (sixth edition): a database of point mutations and short additions and deletions.

Authors:  F Giannelli; P M Green; S S Sommer; M C Poon; M Ludwig; R Schwaab; P H Reitsma; M Goossens; A Yoshioka; G G Brownlee
Journal:  Nucleic Acids Res       Date:  1996-01-01       Impact factor: 16.971

2.  In vivo genome editing restores haemostasis in a mouse model of haemophilia.

Authors:  Hojun Li; Virginia Haurigot; Yannick Doyon; Tianjian Li; Sunnie Y Wong; Anand S Bhagwat; Nirav Malani; Xavier M Anguela; Rajiv Sharma; Lacramiora Ivanciu; Samuel L Murphy; Jonathan D Finn; Fayaz R Khazi; Shangzhen Zhou; David E Paschon; Edward J Rebar; Frederic D Bushman; Philip D Gregory; Michael C Holmes; Katherine A High
Journal:  Nature       Date:  2011-06-26       Impact factor: 49.962

  2 in total

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