A method for noninvasive prenatal diagnosis of monogenic autosomal recessive disorders

被引：8

作者：

Cutts, Anthony ^{[1
,2
,3
]}

Vavoulis, Dimitrios V. ^{[1
,2
,3
,4
]}

Petrou, Mary ^{[5
,6
]}

Smith, Frances ^{[7
]}

Clark, Barnaby ^{[8
,9
]}

Henderson, Shirley ^{[10
,11
]}

Schuh, Anna ^{[1
,2
,3
,12
]}

机构：

[1] Univ Oxford, Dept Oncol, Mol Diagnost Ctr, Oxford, England

[2] Univ Oxford, NIHR Oxford Biomed Res Ctr, Oxford, England

[3] Univ Oxford, Dept Oncol, Oxford, England

[4] Univ Oxford, Wellcome Ctr Human Genet, Oxford, England

[5] UCL, Inst Womens Hlth, London, England

[6] Univ Coll London Hosp NHS Trust, Haemoglobinopathy Genet Serv, London, England

[7] Kings Coll Hosp London, Viapath LLP, Mol Diagnost, London, England

[8] Kings Coll London, Red Cell Biol, London, England

[9] Kings Coll Hosp London, Precis Med, London, England

[10] Genom England, London, England

[11] NHS England, London, England

[12] Oxford Univ Hosp NHS Trust, Dept Hematol, Oxford, England

来源：

BLOOD | 2019年 / 134卷 / 14期

关键词：

MATERNAL PLASMA; BETA-THALASSEMIA; FETAL DNA;

D O I：

10.1182/blood.2019002099

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：1190 / 1193

页数：4

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