一种针对具有显著突变异质性疾病的遗传咨询新策略：以乙型血友病为例 - Suppr

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A new strategy for the genetic counselling of diseases of marked mutational heterogeneity: haemophilia B as a model.

作者信息

Giannelli F, Saad S, Montandon A J, Bentley D R, Green P M

机构信息

Division of Medical and Molecular Genetics, United Medical School, Guy's Hospital, London.

出版信息

J Med Genet. 1992 Sep;29(9):602-7. doi: 10.1136/jmg.29.9.602.

DOI:10.1136/jmg.29.9.602

PMID:1404290

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1016089/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e43e/1016089/78219fad7e82/jmedgene00023-0005-a.jpg

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引用本文的文献

Carrier detection and prenatal diagnosis of hemophilia B with more advanced techniques.采用更先进技术进行B型血友病的携带者检测和产前诊断。

Ann Hematol. 1993 Dec;67(6):289-93. doi: 10.1007/BF01696349.

本文引用的文献

[Benign epithelial pulmonary tumors].[良性上皮性肺肿瘤]

Khirurgiia (Mosk). 1959 Jan;35(1):29-32.

Gene deletions in patients with haemophilia B and anti-factor IX antibodies.B型血友病和抗凝血因子IX抗体患者的基因缺失

Nature. 1983;303(5913):181-2. doi: 10.1038/303181a0.

Treatment of haemophilia and related disorders in Britain and Northern Ireland during 1976-80: report on behalf of the directors of haemophilia centres in the United Kingdom.1976 - 1980年英国和北爱尔兰血友病及相关疾病的治疗：代表联合王国血友病中心主任的报告

Br Med J (Clin Res Ed). 1983 Mar 19;286(6369):929-33. doi: 10.1136/bmj.286.6369.929.

The gene structure of human anti-haemophilic factor IX.人抗血友病因子IX的基因结构

EMBO J. 1984 May;3(5):1053-60. doi: 10.1002/j.1460-2075.1984.tb01926.x.

The putative factor IX gene promoter in hemophilia B Leyden.乙型血友病莱顿中假定的凝血因子IX基因启动子。

Blood. 1988 Sep;72(3):1074-6.

Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations.单碱基对错配中胞嘧啶和胸腺嘧啶与羟胺和四氧化锇的反应性及其在突变研究中的应用

Proc Natl Acad Sci U S A. 1988 Jun;85(12):4397-401. doi: 10.1073/pnas.85.12.4397.

A factor IX mutation, verified by direct genomic sequencing, causes haemophilia B by a novel mechanism.经直接基因组测序验证的一种因子IX突变通过一种新机制导致B型血友病。

EMBO J. 1988 Oct;7(10):3009-15. doi: 10.1002/j.1460-2075.1988.tb03164.x.

Cause of the 'inhibitor' phenotype in the haemophilias.血友病中“抑制剂”表型的成因。

Nature. 1986;320(6058):196. doi: 10.1038/320196a0.

Nucleotide sequence of the gene coding for human factor VII, a vitamin K-dependent protein participating in blood coagulation.编码人凝血因子VII的基因的核苷酸序列，凝血因子VII是一种参与血液凝固的维生素K依赖性蛋白。

Proc Natl Acad Sci U S A. 1987 Aug;84(15):5158-62. doi: 10.1073/pnas.84.15.5158.

Nucleotide sequence of the gene for human factor IX (antihemophilic factor B).人凝血因子IX（抗血友病因子B）基因的核苷酸序列。

Biochemistry. 1985 Jul 2;24(14):3736-50. doi: 10.1021/bi00335a049.

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