Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy
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Title
Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy
Authors
Keywords
Exome sequencing, Lipodystrophy, BSCL2
Journal
BMC Medical Genetics
Volume 15, Issue 1, Pages -
Publisher
Springer Nature
Online
2014-06-24
DOI
10.1186/1471-2350-15-71
References
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Related references
Note: Only part of the references are listed.- Disease-targeted sequencing: a cornerstone in the clinic
- (2013) Heidi L. Rehm NATURE REVIEWS GENETICS
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- (2011) Gladys Montenegro et al. ANNALS OF NEUROLOGY
- Lipodystrophies: Genetic and Acquired Body Fat Disorders
- (2011) Abhimanyu Garg JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- Molecular Diagnosis of Neonatal Diabetes Mellitus Using Next-Generation Sequencing of the Whole Exome
- (2010) Amélie Bonnefond et al. PLoS One
- Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy
- (2009) Yukiko K. Hayashi et al. JOURNAL OF CLINICAL INVESTIGATION
- Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
- (2009) Murim Choi et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Association of a Homozygous Nonsense Caveolin-1 Mutation with Berardinelli-Seip Congenital Lipodystrophy
- (2008) C. A. Kim et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
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