Next generation sequencing and de novo transcriptomics to study gene evolution
نویسندگان
چکیده
منابع مشابه
Next-generation sequencing corroborates a probable de novo GNPTG variation previously detected by Sanger sequencing
Letter to the Editor Mucolipidosis III (MLIII) is an autosomal recessive disease caused by pathogenic variations in theGNPTAB (MLIII alpha/beta) or GNPTG (MLIII gamma) genes. GNPTAB and GNPTG encode, respectively, the α/β and γ subunits of GlcNAc-1-phosphotransferase, the enzyme responsible for catalyzing the addition of a mannose-6-phosphate residue to lysosomal hydrolases, allowing their entr...
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ژورنال
عنوان ژورنال: Plant Methods
سال: 2014
ISSN: 1746-4811
DOI: 10.1186/1746-4811-10-34