Download 32nd Hemophilia Symposium: Hamburg 2001 by W. Schramm, H. Krebs (auth.), Professor Dr. med. Inge PDF

By W. Schramm, H. Krebs (auth.), Professor Dr. med. Inge Scharrer, Professor Dr. med. Wolfgang Schramm (eds.)

This booklet includes the contributions to the thirty second Hemophilia Symposium, Hamburg 2001. the most issues are epidemiology, hemophilia, pediatric hemostasiology. the amount is rounded off through a variety of unfastened papers and posters on hemophilia, hemorrhagic diathesis, thrombophilic diathesis and linked issues.

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Extra info for 32nd Hemophilia Symposium: Hamburg 2001

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K. H ARTL, U. KUNZE, P. ARENDS, J. D. JONES, M. KRONAWETTER, P. KURN IK , 1. PABINGER, H . RAMSCHAK, E. R. SCHWARZ, W. STREIF, H. TURK, H. WANK, W. ZENZ and REITER, K . ZWIEAUER Patients and Methods Each year the Institute of Social Medicine of Vienna (ISM) organizes the annual survey of the Austrian Hemophilia Centers where the anonymous questionnaires from all collaborating centers are collected and analyzed. The patients data are collected by the co-authors of this report using specially designed questionnaires.

Schwaab R, Oldenburg J, Lalloz MRA,Schwaab V, Pemberton S, Hantland P, Brackmann HH, Tuddenham EGD, Michaelides K. Factor VIII gene mutations found by a comparative study of SSCP, DGGE and CMC and their anal ysis on a molecular model of factor VIII protein. Hum Genet 1997;101:323-32. 9. Tarn W-Y, Steitz JA. Pre-mRNA splicing : the discover y of a new spliceosome doubles the challenge. Trends Biochem. 1997;22:132- 7. 10. Vidal F,Frassac E, Altisent C, Puig L, Gallardo D. Rapid hemophilia A molecular diagnosis by a simple DNA sequencing procedure: identification of 14 novel mutation.

A 29 Table3. Novel Mutations in the FVIII Gene a) Novel Mutations in the Coding Region Exon Patient Mutation 4 14 14 14 17 18 18 26 24 11 15 20 13 27 9 31 A~T T~G A~T insT insT A~G ins GGAG delC nt cDNA Codon Amino Acid Exchange Domain Phenotype 440 2496 2893 3417-3418 5696-5697 5834 5968-5972 7013 128 813 946 1120 1880 1926 1971 2319 V~D Al B B B A3 A3 A3 C2 Y~X K~X new 26aa,X new 3aa,X M~V new 2aa,X L~X severe severe severe severe severe moderate severe severe b) Novel Mutations in Introns Leadingmost Likely to SplicingDefects Intron Patient Mutation Location Effect on Splicing Phenotype 22 35 T~A 2 nt no splicing, newORF?

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