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OpenAccess [PUBDB-2017-05903] Journal Article
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Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular NoncompactionCLINICAL PERSPECTIVE
Background — High throughput next-generation sequencing techniques have made whole genome sequencing accessible in clinical practice; however, the abundance of variation in the human genomes makes the identification of a disease-causing mutation on a background of benign rare variants challenging. Methods and Results — Here we combine whole genome sequencing with linkage analysis in a 3-generation family affected by cardiomyopathy with features of autosomal dominant left ventricular noncompaction cardiomyopathy. [...]
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[PUBDB-2017-01665] Journal Article
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Structure of the mycobacterial ESX-5 type VII secretion system membrane complex by single-particle analysis
Mycobacteria are characterized by their impermeable outer membrane, which is rich in mycolic acids$^1$. To transport substrates across this complex cell envelope, mycobacteria rely on type VII (also known as ESX) secretion systems$^2$. [...]
Fulltext: Nature Microbiol. 2 (2017) 17047, Suppl. - Download fulltextPDF; Nature Microbiol. 2 (2017) 17047 - Download fulltextPDF;

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