Work

Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder

Year: 2016

Type: book-chapter

Study design: Case Report

Source: JIMD Reports

DOI: 10.1007/8904_2016_541

Authors: Michael Nafisinia, Yiran Guo, Xiao Dang, Jiankang Li, Yulan Chen, Jianguo Zhang, Nicole J. Lake, Wendy A. Gold, Lisa G. Riley, David R. Thorburn, Brendan Keating, Xun Xu, Hakon Hakonarson, John Christodoulou

Institutions: The University of Sydney, Children's Hospital at Westmead, Children's Hospital of Philadelphia, BGI Group (China), University of Chinese Academy of Sciences, BGI Research, Royal Children's Hospital, The University of Melbourne, Victorian Clinical Genetics Services, Murdoch Children's Research Institute

Language: English

Topic: Mitochondrial Function and Pathology

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funder: Eunice Kennedy Shriver National Institute of Child Health and Human Development

Award: The Intellectual and Developmental Disabilities Research Center at CHOP/Penn

OpenAlex ID: W2462471718

FWCI: 2.479

Cites: 22

Cited by: 19

Related to: 10