Literature DB >> 2121026

Identical point mutations in the factor VIII gene that have different clinical manifestations of hemophilia A.

R Schwaab, M Ludwig, J Oldenburg, H H Brackmann, H Egli, L Kochhan, K Olek.   

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Year:  1990        PMID： 2121026      PMCID： PMC1683790     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  6 in total

1.  Molecular analysis of hemophilia A mutations in the Finnish population.

Authors:  B Levinson; A E Lehesjoki; A de la Chapelle; J Gitschier
Journal:  Am J Hum Genet       Date:  1990-01       Impact factor: 11.025

2.  Identification of a missense mutation in the factor VIII gene of a mild hemophiliac.

Authors:  J Gitschier; W I Wood; M A Shuman; R M Lawn
Journal:  Science       Date:  1986-06-13       Impact factor: 47.728

3.  Mild hemophilia A resulting from Arg-to-Leu substitution in exon 26 of the factor VIII gene.

Authors:  H Inaba; M Fujimaki; H H Kazazian; S E Antonarakis
Journal:  Hum Genet       Date:  1989-03       Impact factor: 4.132

4.  A recurrent missense mutation (Arg----Gln) and a partial deletion in factor VIII gene causing severe haemophilia A.

Authors:  F Bernardi; S Volinia; P Patracchini; D Gemmati; S Boninsegna; C Schwienbacher; G Marchetti
Journal:  Br J Haematol       Date:  1989-02       Impact factor: 6.998

5.  Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides.

Authors:  H Youssoufian; S E Antonarakis; W Bell; A M Griffin; H H Kazazian
Journal:  Am J Hum Genet       Date:  1988-05       Impact factor: 11.025

6.  A HindIII RFLP and a gene lesion in the coagulation factor VIII gene.

Authors:  F Bernardi; C Legnani; S Volinia; P Patracchini; G Rodorigo; V DeRosa; G Marchetti
Journal:  Hum Genet       Date:  1988-04       Impact factor: 4.132
  6 in total
  3 in total

1.  Four different mutations in codon 28 of alpha spectrin are associated with structurally and functionally abnormal spectrin alpha I/74 in hereditary elliptocytosis.

Authors:  T L Coetzer; K Sahr; J Prchal; H Blacklock; L Peterson; R Koler; J Doyle; J Manaster; J Palek
Journal:  J Clin Invest       Date:  1991-09       Impact factor: 14.808

2.  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

3.  Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene.

Authors:  E G Tuddenham; D N Cooper; J Gitschier; M Higuchi; L W Hoyer; A Yoshioka; I R Peake; R Schwaab; K Olek; H H Kazazian
Journal:  Nucleic Acids Res       Date:  1991-09-25       Impact factor: 16.971
  3 in total

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