Is Gene-Size an Issue for the Diagnosis of Skeletal Muscle Disorders?-Reference-Cited by-同舟云学术

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Is Gene-Size an Issue for the Diagnosis of Skeletal Muscle Disorders?

Published:2020-06-02 Issue:3 Volume:7 Page:203-216
ISSN:2214-3599
Container-title:Journal of Neuromuscular Diseases
language:
Short-container-title:JND

Author:

Savarese Marco¹²,Välipakka Salla¹²,Johari Mridul¹²,Hackman Peter¹²,Udd Bjarne¹²³⁴

Affiliation:

1. Folkhälsan Research Center, Helsinki, Finland

2. Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland

3. Neuromuscular Research Center, Tampere University and University Hospital, Tampere, Finland

4. Department of Neurology, Vaasa Central Hospital, Vaasa, Finland

Publisher

IOS Press

Subject

Neurology (clinical),Neurology

Reference140 articles.

1. Initial sequencing and analysis of the human genome;Lander;Nature,2001

2. The origins of genome complexity;Lynch;Science,2003

3. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals;Koenig;Cell,1987

4. Long genes and genes with multiple splice variants are enriched in pathways linked to cancer and other multigenic diseases;Sahakyan;BMC Genomics,2016

5. Gene length and expression level shape genomic novelties;Grishkevich;Genome Res,2014

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