巴西南部血友病B患者的分子特征分析。 - Suppr

Molecular characterization of haemophilia B patients in southern Brazil.

作者信息

Meireles M R, Pantoja A G, Ornaghi A P M, Vieira G F, Salzano F M, Bandinelli E

机构信息

Departamento de Genética, Instituto de Biociências, Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.

出版信息

Haemophilia. 2017 Sep;23(5):e457-e461. doi: 10.1111/hae.13277. Epub 2017 Jul 19.

DOI:10.1111/hae.13277

PMID:28722788

Abstract

摘要

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Molecular characterization of haemophilia B patients in southern Brazil.

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Comparative study of the prevalence of clotting factor deficiency in carriers of haemophilia A and haemophilia B.

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Br J Haematol. 2015 May;169(3):448-9. doi: 10.1111/bjh.13223. Epub 2014 Nov 10.

Absence of correlation between X chromosome inactivation pattern and plasma concentration of factor VIII and factor IX in carriers of haemophilia A and B.

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Haemophilia B caused by mutation of a potential thrombin cleavage site in factor IX.

Nucleic Acids Res. 1990 Mar 11;18(5):1310. doi: 10.1093/nar/18.5.1310.

Factor levels in carriers of haemophilia are associated with familial severity: a Danish single centre study.

Haemophilia. 2015 Sep;21(5):e440-2. doi: 10.1111/hae.12738. Epub 2015 Jul 14.

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Hum Mutat. 1994;3(2):156-8. doi: 10.1002/humu.1380030211.

引用本文的文献

Defining the molecular pathology and consequent phenotypes in Egyptian HB patients.

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Molecular characterization of hemophilia B patients in Colombia.

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Molecular characterization of haemophilia B patients in southern Brazil.

作者信息

Meireles M R, Pantoja A G, Ornaghi A P M, Vieira G F, Salzano F M, Bandinelli E

机构信息

Departamento de Genética, Instituto de Biociências, Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.

出版信息

Haemophilia. 2017 Sep;23(5):e457-e461. doi: 10.1111/hae.13277. Epub 2017 Jul 19.

DOI:10.1111/hae.13277

PMID:28722788

Abstract

摘要

相似文献

Molecular characterization of haemophilia B patients in southern Brazil.

Haemophilia. 2017 Sep;23(5):e457-e461. doi: 10.1111/hae.13277. Epub 2017 Jul 19.

Comparative study of the prevalence of clotting factor deficiency in carriers of haemophilia A and haemophilia B.

Haemophilia. 2017 Sep;23(5):e471-e473. doi: 10.1111/hae.13298. Epub 2017 Jul 9.

Progressive increase in FIX level in males with haemophilia B Leyden and c.35G > A mutation in early childhood not related to androgen effect.

Br J Haematol. 2020 Jun;189(6):e262-e265. doi: 10.1111/bjh.16688. Epub 2020 Apr 28.

Single synonymous mutation in factor IX alters protein properties and underlies haemophilia B.

J Med Genet. 2017 May;54(5):338-345. doi: 10.1136/jmedgenet-2016-104072. Epub 2016 Dec 22.

Variability in bleeding phenotype in Amish carriers of haemophilia B with the 31008 C-->T mutation.

Haemophilia. 2009 Jan;15(1):91-100. doi: 10.1111/j.1365-2516.2008.01792.x. Epub 2008 Jul 24.

Effect of age on factor IX levels in symptomatic carriers of Haemophila B Leyden.

Br J Haematol. 2015 May;169(3):448-9. doi: 10.1111/bjh.13223. Epub 2014 Nov 10.

Absence of correlation between X chromosome inactivation pattern and plasma concentration of factor VIII and factor IX in carriers of haemophilia A and B.

Thromb Haemost. 2000 Mar;83(3):433-7.

Haemophilia B caused by mutation of a potential thrombin cleavage site in factor IX.

Nucleic Acids Res. 1990 Mar 11;18(5):1310. doi: 10.1093/nar/18.5.1310.

Factor levels in carriers of haemophilia are associated with familial severity: a Danish single centre study.

Haemophilia. 2015 Sep;21(5):e440-2. doi: 10.1111/hae.12738. Epub 2015 Jul 14.

A novel mutation (Val-373 to Glu) in the catalytic domain of factor IX, resulting in moderately/severe hemophilia B in a southern French patient.

Hum Mutat. 1994;3(2):156-8. doi: 10.1002/humu.1380030211.

引用本文的文献

Defining the molecular pathology and consequent phenotypes in Egyptian HB patients.

J Genet Eng Biotechnol. 2021 May 17;19(1):75. doi: 10.1186/s43141-021-00165-8.

Molecular characterization of hemophilia B patients in Colombia.

Mol Genet Genomic Med. 2020 May;8(5):e1210. doi: 10.1002/mgg3.1210. Epub 2020 Mar 10.

Molecular characterization of haemophilia B patients in southern Brazil.

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Molecular characterization of haemophilia B patients in southern Brazil.

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