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Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy
BACKGROUND: Exome sequencing has become more and more affordable and the technique has emerged as an important diagnostic tool for monogenic disorders at early stages of investigations, in particular when clinical information is limited or unspecific as well as in cases of genetic heterogeneity. MET...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2014
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4076434/ https://www.ncbi.nlm.nih.gov/pubmed/24961962 http://dx.doi.org/10.1186/1471-2350-15-71 |