Whole Genome Sequencing to Identify Novel Germline Fumarate Hydratase Mutation in Child With Bilateral Renal Cell Carcinoma

被引：0

作者：

Kershaw, Christopher ^{[1
]}

Demain, Leigh ^{[1
]}

Baker, Eleanor ^{[1
]}

Burghel, George ^{[1
,2
]}

Durkie, Miranda ^{[3
]}

Forde, Claire ^{[1
]}

Makin, Guy ^{[2
,4
]}

Cheesman, Edmund ^{[5
]}

Warren, Anne ^{[6
]}

Gokhale, David ^{[1
]}

Schlecht, Helene ^{[1
]}

Maher, Eamonn ^{[7
,8
,9
]}

Oliveira, Pedro ^{[10
]}

Woodward, Emma ^{[1
,2
]}

机构：

[1] Manchester Univ NHS Fdn Trust, Manchester Ctr Genom Med, Manchester, England

[2] Univ Manchester, Fac Biol Med & Hlth, Manchester, England

[3] Sheffield Childrens NHS Fdn Trust, Sheffield Diagnost Genet Serv, Sheffield, England

[4] Royal Manchester Childrens Hosp, Dept Paediat Oncol, Manchester, England

[5] Royal Manchester Childrens Hosp, Dept Paediat Histopathol, Manchester, England

[6] Cambridge Univ Hosp NHS Fdn Trust, Dept Histopathol, Cambridge, England

[7] Aston Univ, Aston Med Sch, Birmingham, England

[8] Univ Cambridge, Dept Med Genet, Cambridge, England

[9] Cambridge Univ Hosp NHS Fdn Trust, Cambridge, England

[10] Christie NHS Fdn Trusts, Dept Pathol, Manchester, England

来源：

CLINICAL GENETICS | 2025年

关键词：

pre-mRNA splicing; RNA; splicing; whole genome sequencing;

D O I：

10.1111/cge.14723

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：702 / 704

页数：3

共 4 条

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