Exome sequencing is an efficient tool for variant late- infantile neuronal ceroid lipofuscinosis molecular diagnosis

HIGHLIGHTS

• who: Diagnosis and colleagues from the Unidad de Genética, Grupo GENIUROS, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Bogotá, Colombia, Department of Vitreoretina, Narayana have published the research: Exome Sequencing Is an Efficient Tool for Variant Late- Infantile Neuronal Ceroid Lipofuscinosis Molecular Diagnosis, in the Journal: PLOS ONE | www.plosone.org of October/15,/2014

SUMMARY

More than 30 pathogenic sequence variants have been described so far in MFSD8, most being homozygous missense mutations (www.ucl.ac.uk/ncl/mutation). Whole-exome sequencing led to identify the novel . . .

 



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