通过定量实时PCR诊断杂合子F8/F9大片段缺失的可靠且经济高效的方法。 - Suppr

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超能文献

Reliable and cost-effective approach for diagnosis of heterozygous F8/F9 large deletions by quantitative real-time PCR.

作者信息

Abelleyro M M, Radic C P, Tetzlaff T, Marchione V, Fundia A F, Larripa I B, Rossetti L C, De Brasi C D

机构信息

Instituto de Medicina Experimental (IMEX), CONICET-Academia Nacional de Medicina, Buenos Aires, Argentina.

Instituto de Ciencias, Universidad Nacional de General Sarmiento (UNGS), Buenos Aires, Argentina.

出版信息

Haemophilia. 2015 May;21(3):e247-e251. doi: 10.1111/hae.12656. Epub 2015 Mar 10.

DOI:10.1111/hae.12656

PMID:25753911

Abstract

摘要

相似文献

Reliable and cost-effective approach for diagnosis of heterozygous F8/F9 large deletions by quantitative real-time PCR.

Haemophilia. 2015 May;21(3):e247-e251. doi: 10.1111/hae.12656. Epub 2015 Mar 10.

[Structure and function of factor VIII and factor IX gene and molecular DNA diagnosis in hemophilia A and B].

Z Arztl Fortbild (Jena). 1988;82(22):1116-22.

[Molecular diagnosis in patients and carriers of hemophilia A and B].

Gac Med Mex. 2005 Jan-Feb;141(1):69-71.

Novel F8 and F9 gene variants from the PedNet hemophilia registry classified according to ACMG/AMP guidelines.

Hum Mutat. 2020 Dec;41(12):2058-2072. doi: 10.1002/humu.24117. Epub 2020 Oct 14.

[Gene mutation and gene diagnosis of hemophilia].

Nihon Seirigaku Zasshi. 1998;60(1):31-42.

Application of a molecular diagnostic algorithm for haemophilia A and B using next-generation sequencing of entire F8, F9 and VWF genes.

Thromb Haemost. 2017 Jan 5;117(1):66-74. doi: 10.1160/TH16-05-0375. Epub 2016 Oct 13.

[Genetic diagnosis in haemophiliacs (haemophilia A, B, carrier)].

Rinsho Byori. 1990 Jun;Suppl 85:102-13.

Identification of mutations in the F8 and F9 gene in families with haemophilia using targeted high-throughput sequencing.

Haemophilia. 2016 Sep;22(5):e427-34. doi: 10.1111/hae.12924. Epub 2016 Jun 13.

[Genetic factors in hemophilia].

Acta Haematol Pol. 1987 Jan-Jun;18(1-2):96-100.

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相似文献

Reliable and cost-effective approach for diagnosis of heterozygous F8/F9 large deletions by quantitative real-time PCR.

Haemophilia. 2015 May;21(3):e247-e251. doi: 10.1111/hae.12656. Epub 2015 Mar 10.

[Structure and function of factor VIII and factor IX gene and molecular DNA diagnosis in hemophilia A and B].

Z Arztl Fortbild (Jena). 1988;82(22):1116-22.

[Molecular diagnosis in patients and carriers of hemophilia A and B].

Gac Med Mex. 2005 Jan-Feb;141(1):69-71.

Novel F8 and F9 gene variants from the PedNet hemophilia registry classified according to ACMG/AMP guidelines.

Hum Mutat. 2020 Dec;41(12):2058-2072. doi: 10.1002/humu.24117. Epub 2020 Oct 14.

[Gene mutation and gene diagnosis of hemophilia].

Nihon Seirigaku Zasshi. 1998;60(1):31-42.

Application of a molecular diagnostic algorithm for haemophilia A and B using next-generation sequencing of entire F8, F9 and VWF genes.

Thromb Haemost. 2017 Jan 5;117(1):66-74. doi: 10.1160/TH16-05-0375. Epub 2016 Oct 13.

[Genetic diagnosis in haemophiliacs (haemophilia A, B, carrier)].

Rinsho Byori. 1990 Jun;Suppl 85:102-13.

Identification of mutations in the F8 and F9 gene in families with haemophilia using targeted high-throughput sequencing.

Haemophilia. 2016 Sep;22(5):e427-34. doi: 10.1111/hae.12924. Epub 2016 Jun 13.

[Genetic factors in hemophilia].

Acta Haematol Pol. 1987 Jan-Jun;18(1-2):96-100.

The molecular genetics of haemophilia A and B.

J Cell Sci Suppl. 1986;4:445-58. doi: 10.1242/jcs.1986.supplement_4.24.

Reliable and cost-effective approach for diagnosis of heterozygous F8/F9 large deletions by quantitative real-time PCR.

作者信息

Abelleyro M M, Radic C P, Tetzlaff T, Marchione V, Fundia A F, Larripa I B, Rossetti L C, De Brasi C D

机构信息

Instituto de Medicina Experimental (IMEX), CONICET-Academia Nacional de Medicina, Buenos Aires, Argentina.

Instituto de Ciencias, Universidad Nacional de General Sarmiento (UNGS), Buenos Aires, Argentina.

出版信息

Haemophilia. 2015 May;21(3):e247-e251. doi: 10.1111/hae.12656. Epub 2015 Mar 10.

DOI:10.1111/hae.12656

PMID:25753911

Abstract

摘要