Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene.

G K Cury,U Matte,O Artigalás,T Alegra,R V Velho,F Sperb,M G Burin,E M Ribeiro,C M Lourenço,C A Kim,E R Valadares,M F Galera,A X Acosta,I V D Schwartz

Gene（2013）

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摘要

Mucolipidosis II and III (MLII and MLIII) alpha/beta are rare autosomal recessive lysosomal storage diseases (LSDs) caused by pathogenic variations in the GNPTAB gene. GNPTAB gene codes for the α and β subunits of phosphotransferase, the enzyme responsible for synthesis of the mannose-6-phosphate (M6P) marker that directs lysosomal enzymes to the lysosome.

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关键词

A,ARSA,CAA,CAG,cDNA,CNPq,CUA,CUG,DBS,dNTPs,EC,ELISA,FAPERGS,FIPE,GAGs,gDNA,GlcNAc-PT,GNPTAB,GNPTG,HCPA,IDS,IDUA,IEM,kDa,LC,MS,LREIM-HCPA,LSD,MgCl2,ML II,ML III,mM,mRNA,M6P,PCR,Pmol,PolyPhen,PRONEX,RNA,SIFT,taq DNA polymerase

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