Literature DB >> 8401514

A mutation in the 3' untranslated region of the factor IX gene in four families with hemophilia B.

E Vielhaber1, D P Jacobson, R P Ketterling, J Z Liu, S S Sommer.   

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Year:  1993        PMID： 8401514     DOI： 10.1093/hmg/2.8.1309

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  9 in total

Review 1.  A systematic analysis of disease-associated variants in the 3' regulatory regions of human protein-coding genes II: the importance of mRNA secondary structure in assessing the functionality of 3' UTR variants.

Authors:  Jian-Min Chen; Claude Férec; David N Cooper
Journal:  Hum Genet       Date:  2006-06-29       Impact factor: 4.132

2.  Factor IX gene mutations causing haemophilia B: comparison of SSC screening versus systematic DNA sequencing and diagnostic applications.

Authors:  P Aguilar-Martinez; M C Romey; J F Schved; J C Gris; J Demaille; M Claustres
Journal:  Hum Genet       Date:  1994-09       Impact factor: 4.132

3.  A complex immunodeficiency is based on U1 snRNP-mediated poly(A) site suppression.

Authors:  Jörg Langemeier; Eva-Maria Schrom; Alona Rabner; Maximilian Radtke; Daniela Zychlinski; Anna Saborowski; Georg Bohn; Yael Mandel-Gutfreund; Jochen Bodem; Christoph Klein; Jens Bohne
Journal:  EMBO J       Date:  2012-09-11       Impact factor: 11.598

4.  Haemophilia B: database of point mutations and short additions and deletions, fifth edition, 1994.

Authors:  F Giannelli; P M Green; S S Sommer; D P Lillicrap; M Ludwig; R Schwaab; P H Reitsma; M Goossens; A Yoshioka; G G Brownlee
Journal:  Nucleic Acids Res       Date:  1994-09       Impact factor: 16.971

5.  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

6.  Identification of a shared F8 mutation in the Korean patients with acquired hemophilia A.

Authors:  Sung Ho Hwang; Jeong A Lim; Hugh Chul Kim; Hyun Woo Lee; Hye Sun Kim
Journal:  Korean J Hematol       Date:  2011-03-15

7.  Molecular characterization of hemophilia B patients in Colombia.

Authors:  Yolima A Parrado Jara; Luz K Yunis Hazbun; Adriana Linares; Juan J Yunis Londoño
Journal:  Mol Genet Genomic Med       Date:  2020-03-10       Impact factor: 2.183

Review 8.  The Molecular Basis of FIX Deficiency in Hemophilia B.

Authors:  Guomin Shen; Meng Gao; Qing Cao; Weikai Li
Journal:  Int J Mol Sci       Date:  2022-03-02       Impact factor: 5.923

9.  Pathological mechanism and antisense oligonucleotide-mediated rescue of a non-coding variant suppressing factor 9 RNA biogenesis leading to hemophilia B.

Authors:  Simon Krooss; Sonja Werwitzke; Johannes Kopp; Alice Rovai; Dirk Varnholt; Amelie S Wachs; Aurelie Goyenvalle; Annemieke Aarstma-Rus; Michael Ott; Andreas Tiede; Jörg Langemeier; Jens Bohne
Journal:  PLoS Genet       Date:  2020-04-08       Impact factor: 5.917
  9 in total

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