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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Detalles Bibliográficos
Autores principales: Schuster, Jens, Khan, Tahir Naeem, Tariq, Muhammad, Shaiq, Pakeeza Arzoo, Mäbert, Katrin, Baig, Shahid Mahmood, Klar, Joakim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research Article
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

Internet

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

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