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Haemophilia A : from mutation analysis to new therapies. / Graw, Jochen; Brackmann, Hans-Hermann; Oldenburg, Johannes; Schneppenheim, Reinhard; Spannagl, Michael; Schwaab, Rainer.

In: NAT GENET, Vol. 6, No. 6, 06.2005, p. 488-501.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Graw, J, Brackmann, H-H, Oldenburg, J, Schneppenheim, R, Spannagl, M & Schwaab, R 2005, 'Haemophilia A: from mutation analysis to new therapies', NAT GENET, vol. 6, no. 6, pp. 488-501. https://doi.org/10.1038/nrg1617

APA

Graw, J., Brackmann, H-H., Oldenburg, J., Schneppenheim, R., Spannagl, M., & Schwaab, R. (2005). Haemophilia A: from mutation analysis to new therapies. NAT GENET, 6(6), 488-501. https://doi.org/10.1038/nrg1617

Vancouver

Graw J, Brackmann H-H, Oldenburg J, Schneppenheim R, Spannagl M, Schwaab R. Haemophilia A: from mutation analysis to new therapies. NAT GENET. 2005 Jun;6(6):488-501. https://doi.org/10.1038/nrg1617

Bibtex

@article{2380de526123499bb56a4af6bc4f3821,
title = "Haemophilia A: from mutation analysis to new therapies",
abstract = "Haemophilia is caused by hundreds of different mutations and manifests itself in clinical conditions of varying severity. Despite being inherited in monogenic form, the clinical features of haemophilia can be influenced by other genetic factors, thereby confounding the boundary between monogenic and multifactorial disease. Unlike sufferers of other genetic diseases, haemophiliacs can be treated successfully by intravenous substitution of coagulation factors. Haemophilia is also the most attractive model for developing gene-therapy protocols, as the normal life expectancy of haemophiliacs allows the side effects of gene therapy, as well as its efficiency, to be monitored over long periods.",
keywords = "DNA Mutational Analysis, Factor VIII, Genetic Therapy, Hemophilia A, Humans, Male, Mutation, Protein Conformation, Recombinant Proteins",
author = "Jochen Graw and Hans-Hermann Brackmann and Johannes Oldenburg and Reinhard Schneppenheim and Michael Spannagl and Rainer Schwaab",
year = "2005",
month = jun,
doi = "10.1038/nrg1617",
language = "English",
volume = "6",
pages = "488--501",
journal = "NAT GENET",
issn = "1061-4036",
publisher = "NATURE PUBLISHING GROUP",
number = "6",

}

RIS

TY - JOUR

T1 - Haemophilia A

T2 - from mutation analysis to new therapies

AU - Graw, Jochen

AU - Brackmann, Hans-Hermann

AU - Oldenburg, Johannes

AU - Schneppenheim, Reinhard

AU - Spannagl, Michael

AU - Schwaab, Rainer

PY - 2005/6

Y1 - 2005/6

N2 - Haemophilia is caused by hundreds of different mutations and manifests itself in clinical conditions of varying severity. Despite being inherited in monogenic form, the clinical features of haemophilia can be influenced by other genetic factors, thereby confounding the boundary between monogenic and multifactorial disease. Unlike sufferers of other genetic diseases, haemophiliacs can be treated successfully by intravenous substitution of coagulation factors. Haemophilia is also the most attractive model for developing gene-therapy protocols, as the normal life expectancy of haemophiliacs allows the side effects of gene therapy, as well as its efficiency, to be monitored over long periods.

AB - Haemophilia is caused by hundreds of different mutations and manifests itself in clinical conditions of varying severity. Despite being inherited in monogenic form, the clinical features of haemophilia can be influenced by other genetic factors, thereby confounding the boundary between monogenic and multifactorial disease. Unlike sufferers of other genetic diseases, haemophiliacs can be treated successfully by intravenous substitution of coagulation factors. Haemophilia is also the most attractive model for developing gene-therapy protocols, as the normal life expectancy of haemophiliacs allows the side effects of gene therapy, as well as its efficiency, to be monitored over long periods.

KW - DNA Mutational Analysis

KW - Factor VIII

KW - Genetic Therapy

KW - Hemophilia A

KW - Humans

KW - Male

KW - Mutation

KW - Protein Conformation

KW - Recombinant Proteins

U2 - 10.1038/nrg1617

DO - 10.1038/nrg1617

M3 - SCORING: Journal article

C2 - 15931172

VL - 6

SP - 488

EP - 501

JO - NAT GENET

JF - NAT GENET

SN - 1061-4036

IS - 6

ER -