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Application of Molecular Genetics to the Investigation of Inherited Bleeding Disorders

Publikation: Bidrag til bog/antologi/rapportBidrag til bog/antologiForskningpeer review

Harvard

Lethagen, SR, Dunø, M & Nielsen, LB 2013, Application of Molecular Genetics to the Investigation of Inherited Bleeding Disorders. i Application of Molecular Genetics to the Investigation of Inherited Bleeding Disorders. Blackwell Publishing Ltd, http://onlinelibrary.wiley.com/book/10.1002/9781118543467, s. 115-123. https://doi.org/10.1002/9781118543467.ch11

APA

Lethagen, S. R., Dunø, M., & Nielsen, L. B. (2013). Application of Molecular Genetics to the Investigation of Inherited Bleeding Disorders. I Application of Molecular Genetics to the Investigation of Inherited Bleeding Disorders (s. 115-123). http://onlinelibrary.wiley.com/book/10.1002/9781118543467: Blackwell Publishing Ltd. https://doi.org/10.1002/9781118543467.ch11

CBE

Lethagen SR, Dunø M, Nielsen LB. 2013. Application of Molecular Genetics to the Investigation of Inherited Bleeding Disorders. I Application of Molecular Genetics to the Investigation of Inherited Bleeding Disorders. http://onlinelibrary.wiley.com/book/10.1002/9781118543467: Blackwell Publishing Ltd. s. 115-123. https://doi.org/10.1002/9781118543467.ch11

MLA

Lethagen, Stefan Rune, Morten Dunø, og Lars Bo Nielsen "Application of Molecular Genetics to the Investigation of Inherited Bleeding Disorders". Application of Molecular Genetics to the Investigation of Inherited Bleeding Disorders. Kapitel 11, http://onlinelibrary.wiley.com/book/10.1002/9781118543467: Blackwell Publishing Ltd. 2013, 115-123. https://doi.org/10.1002/9781118543467.ch11

Vancouver

Lethagen SR, Dunø M, Nielsen LB. Application of Molecular Genetics to the Investigation of Inherited Bleeding Disorders. I Application of Molecular Genetics to the Investigation of Inherited Bleeding Disorders. http://onlinelibrary.wiley.com/book/10.1002/9781118543467: Blackwell Publishing Ltd. 2013. s. 115-123 https://doi.org/10.1002/9781118543467.ch11

Author

Lethagen, Stefan Rune ; Dunø, Morten ; Nielsen, Lars Bo. / Application of Molecular Genetics to the Investigation of Inherited Bleeding Disorders. Application of Molecular Genetics to the Investigation of Inherited Bleeding Disorders. http://onlinelibrary.wiley.com/book/10.1002/9781118543467 : Blackwell Publishing Ltd, 2013. s. 115-123

Bibtex

@inbook{a48b41e2623a41f5afaa8b8984752a57,
title = "Application of Molecular Genetics to the Investigation of Inherited Bleeding Disorders",
abstract = "Hemophilia is an inherited bleeding disorder primarily caused by deficiency of coagulation factor (F)VIII (hemophilia A) or FIX (hemophilia B). Both conditions are X-linked. More than 2100 different F8 mutations have been described, the most common being a 500 kb inversion involving exon 1 to exon 22. In hemophilia B, more than 1100 unique F9 mutations have been described scattered all over the gene. Carrier analysis, genetic counseling, prenatal and pre-implantation genetic diagnosis are all based on correct identifying the disease-causing mutation. Linkage analysis can be considered when the causative mutation is unknown. More rare bleeding disorders are generally recessively inherited, and are often caused by mutations that are specific for individual families, and mutations are scattered throughout the genes. Laboratories performing molecular genetic analyses must have validated internal quality control systems in place, and participate in established external quality assessment programs.",
author = "Lethagen, {Stefan Rune} and Morten Dun{\o} and Nielsen, {Lars Bo}",
year = "2013",
month = "2",
day = "26",
doi = "10.1002/9781118543467.ch11",
language = "English",
isbn = "9780470671191",
pages = "115--123",
booktitle = "Application of Molecular Genetics to the Investigation of Inherited Bleeding Disorders",
publisher = "Blackwell Publishing Ltd",

}

RIS

TY - CHAP

T1 - Application of Molecular Genetics to the Investigation of Inherited Bleeding Disorders

AU - Lethagen, Stefan Rune

AU - Dunø, Morten

AU - Nielsen, Lars Bo

PY - 2013/2/26

Y1 - 2013/2/26

N2 - Hemophilia is an inherited bleeding disorder primarily caused by deficiency of coagulation factor (F)VIII (hemophilia A) or FIX (hemophilia B). Both conditions are X-linked. More than 2100 different F8 mutations have been described, the most common being a 500 kb inversion involving exon 1 to exon 22. In hemophilia B, more than 1100 unique F9 mutations have been described scattered all over the gene. Carrier analysis, genetic counseling, prenatal and pre-implantation genetic diagnosis are all based on correct identifying the disease-causing mutation. Linkage analysis can be considered when the causative mutation is unknown. More rare bleeding disorders are generally recessively inherited, and are often caused by mutations that are specific for individual families, and mutations are scattered throughout the genes. Laboratories performing molecular genetic analyses must have validated internal quality control systems in place, and participate in established external quality assessment programs.

AB - Hemophilia is an inherited bleeding disorder primarily caused by deficiency of coagulation factor (F)VIII (hemophilia A) or FIX (hemophilia B). Both conditions are X-linked. More than 2100 different F8 mutations have been described, the most common being a 500 kb inversion involving exon 1 to exon 22. In hemophilia B, more than 1100 unique F9 mutations have been described scattered all over the gene. Carrier analysis, genetic counseling, prenatal and pre-implantation genetic diagnosis are all based on correct identifying the disease-causing mutation. Linkage analysis can be considered when the causative mutation is unknown. More rare bleeding disorders are generally recessively inherited, and are often caused by mutations that are specific for individual families, and mutations are scattered throughout the genes. Laboratories performing molecular genetic analyses must have validated internal quality control systems in place, and participate in established external quality assessment programs.

U2 - 10.1002/9781118543467.ch11

DO - 10.1002/9781118543467.ch11

M3 - Book chapter

SN - 9780470671191

SP - 115

EP - 123

BT - Application of Molecular Genetics to the Investigation of Inherited Bleeding Disorders

PB - Blackwell Publishing Ltd

CY - http://onlinelibrary.wiley.com/book/10.1002/9781118543467

ER -

ID: 42456140