Exome sequencing of patients with histiocytoid cardiomyopathy reveals a de novoNDUFB11mutation that plays a role in the pathogenesis of histiocytoid cardiomyopathy-Reference-Cited by-同舟云学术

Exome sequencing of patients with histiocytoid cardiomyopathy reveals a de novoNDUFB11mutation that plays a role in the pathogenesis of histiocytoid cardiomyopathy

Published:2015-04-29 Issue:9 Volume:167 Page:2114-2121
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Shehata Bahig M.¹,Cundiff Caitlin A.¹²,Lee Kevin²,Sabharwal Ankit³⁴,Lalwani Mukesh Kumar³,Davis Angela K.¹,Agrawal Vartika²,Sivasubbu Sridhar³⁴,Iannucci Glen J.¹,Gibson Greg¹²

Affiliation:

1. School of Medicine; Emory University; Atlanta Georgia

2. School of Biology; CSIR Georgia Institute of Technology; Atlanta Georgia

3. Genomics and Molecular Medicine; Institute of Genomics and Integrative Biology; Delhi India

4. Academy of Scientific and Innovative Research (AcSIR); Anusandhan Bhavan; New Delhi India

Funder

Friends Grant: Childrens Healthcare of Atlanta

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37138/fullpdf

Reference40 articles.

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3. MITOMAP: a human mitochondrial genome database - 2004 update;Brandon;Nucl Acids Res,2005

4. Mitochondrial trna(thr) mutations and lethal infantile mitochondrial myopathy;Brown;Am J Hum Genet,1992

5. Histiocytoid cardiomyopathy of infancy: an unexplained myofiber degeneration;Brunton;Pathology,1977

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