换一批
第一作者：
A-K,Rohlfing
第一单位：
Universitätsklinikum Münster, Klinik und Poliklinik für Kinder- und Jugendmedizin-Allgemeine Pädiatrie, Münster, Germany.
作者：
关键词
ALG1ALG1 pseudogenesALTASTAT-IIIAlanine-aminotransferaseAntithrombin-IIIAsparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)=chitobiosyldiphosphodolichol beta-mannosyltransferaseAspartate aminotransferaseC-reactive protein (reacting with C-polysaccharide of Pneumococcus)CDGCDTCEPHCHECKCK-MBCPAPCRPCarbohydrate deficient transferrinCentre d'Etude du Polymorphisme HumainCholinesteraseCongenital disorder of glycosylation type IkCongenital disorders of glycosylationContinuous positive airway pressureCreatine kinaseCreatine kinase - muscle-brain, i.e. myocardial subtype of CKDMEMDMSODNA complementary to RNADPAGT1DemethylsulfoxideDeoxyribonucleoside triphosphateDolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1Dulbecco's Modified Eagle's MediumEDTAEthylenediaminetetraacetic acidGDPGLDHGOTGPTGlcGlcNAcGlucoseGlutamate dehydrogenaseGlutamic oxaloacetic transaminaseGlutamic-pyruvic transaminaseGuanosine diphosphateHMT1HPLCHigh performance liquid chromatographyHuman mannosyltransferase 1HypoglycosylationHypoproteinemiaIEFIGF1IGFBP3IMPPIgGImmunoglobulin GImmunoprecipitationInsulin-like growth factor 1Insulin-like growth factor-binding protein 3Isoelectric focusingKilodaltonsLLOLipid-linked oligosaccharidesMEMManMannoseMinimum essential mediumN-acetyl-d-glucosaminePAGEPBSPCRPPPhosphate buffered salinePolyacrylamide-gel electrophoresisPolymerase chain reactionPyrophosphateRERRough endoplasmic reticulumSDSSeizuresSodium dodecyl sulfatecDNAdNTPkDa
医学主题词
氨基酸序列(Amino Acid Sequence);先天性糖基化病(Congenital Disorders of Glycosylation);致命性结局(Fatal Outcome);糖基化(Glycosylation);人类(Humans);婴儿(Infant);男(雄)性(Male);甘露糖基转移酶类(Mannosyltransferases);分子序列数据(Molecular Sequence Data);突变(Mutation);序列比对(Sequence Alignment)
DOI
10.1016/j.gene.2013.10.013
PMID
24157261
发布时间
2013-12-20
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Gene
345-51页
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