Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement

被引：0

作者：

Kai Wang

Cecilia Kim

Jonathan Bradfield

Yunfei Guo

Elina Toskala

Frederick G Otieno

Cuiping Hou

Kelly Thomas

Christopher Cardinale

Gholson J Lyon

Ryan Golhar

Hakon Hakonarson

机构：

[1] University of Southern California,Zilkha Neurogenetic Institute, Keck School of Medicine

[2] Children's Hospital of Philadelphia,Center for Applied Genomics

[3] Cold Spring Harbor Laboratory,Stanley Institute for Cognitive Genomics

[4] University of Pennsylvania School of Medicine,Department of Pediatrics

来源：

Genome Medicine | / 5卷

关键词：

Exome Sequencing; Glycogen Storage Disease; Glycogen Storage Disease Type; Mendelian Disease; Disease Candidate Gene;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

引用

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