Literature DB >> 1357229

Screening for mutations in the gene encoding factor IX.

L R Nielsen1, M Schwartz, E Scheibel.   

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Year:  1992        PMID： 1357229     DOI： 10.1007/bf02435971

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  8 in total

1.  Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.

Authors:  M Orita; H Iwahana; H Kanazawa; K Hayashi; T Sekiya
Journal:  Proc Natl Acad Sci U S A       Date:  1989-04       Impact factor: 11.205

2.  Nucleotide sequence of the gene for human factor IX (antihemophilic factor B).

Authors:  S Yoshitake; B G Schach; D C Foster; E W Davie; K Kurachi
Journal:  Biochemistry       Date:  1985-07-02       Impact factor: 3.162

3.  Detection and localization of single base changes by denaturing gradient gel electrophoresis.

Authors:  R M Myers; T Maniatis; L S Lerman
Journal:  Methods Enzymol       Date:  1987       Impact factor: 1.600

4.  Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations.

Authors:  R G Cotton; N R Rodrigues; R D Campbell
Journal:  Proc Natl Acad Sci U S A       Date:  1988-06       Impact factor: 11.205

5.  Plasma assay of fetal factors VIIIC and IX for prenatal diagnosis of haemophilia.

Authors:  R S Mibashan; C H Rodeck; J K Thumpston; R J Edwards; J D Singer; J M White; S Campbell
Journal:  Lancet       Date:  1979-06-23       Impact factor: 79.321

6.  Direct detection of point mutations by mismatch analysis: application to haemophilia B.

Authors:  A J Montandon; P M Green; F Giannelli; D R Bentley
Journal:  Nucleic Acids Res       Date:  1989-05-11       Impact factor: 16.971

7.  Haemophilia B mutations in a complete Swedish population sample: a test of new strategy for the genetic counselling of diseases with high mutational heterogeneity.

Authors:  P M Green; A J Montandon; R Ljung; D R Bentley; I M Nilsson; S Kling; F Giannelli
Journal:  Br J Haematol       Date:  1991-07       Impact factor: 6.998

8.  Molecular pathology of haemophilia B.

Authors:  P M Green; D R Bentley; R S Mibashan; I M Nilsson; F Giannelli
Journal:  EMBO J       Date:  1989-04       Impact factor: 11.598
  8 in total
  3 in total

1.  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

2.  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

3.  Molecular Analysis of Factor VIII and Factor IX Genes in Hemophilia Patients: Identification of Novel Mutations and Molecular Dynamics Studies.

Authors:  Faisal A Al-Allaf; Mohiuddin M Taher; Zainularifeen Abduljaleel; Abdellatif Bouazzaoui; Mohammed Athar; Neda M Bogari; Halah A Abalkhail; Tarek Ma Owaidah
Journal:  J Clin Med Res       Date:  2017-02-21
  3 in total

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