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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...
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| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4076434/ https://ncbi.nlm.nih.gov/pubmed/24961962 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-15-71 |
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