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关键词
ACDNA complementary to RNAGGNPTABGNPTGGlcNAc-1-phosphotransferaseKmM6PMLIIIMWMucolipidosis type IIIN-acetylglucosamine-1-phosphotransferaseNMDNNNeural NetworkORFTWtadenosinealphabase pair(s)betabpcDNAcytidinedNTPdeoxyribonucleoside triphosphategammagene encoding the alpha/beta subunit of the N-acetylglucosamine-1-phosphotransferasegene encoding the gamma subunit of the N-acetylglucosamine-1-phosphotransferaseguanosinekDakanamycinkbkilobase(s) or 1000bpkilodalton(s)mannose-6-phosphatemolecular weightmucolipidosis type IIInonsense-mediated mRNA decayopen reading framethymidinewild typeαβγ
主题词
青少年(Adolescent);儿童(Child);近亲(Consanguinity);DNA突变分析(DNA Mutational Analysis);外显子(Exons);女(雌)性(Female);遗传关联研究(Genetic Association Studies);杂合子(Heterozygote);人类(Humans);男(雄)性(Male);黏脂质累积病(Mucolipidoses);突变(Mutation);转移酶类(其他取代磷酸族)(Transferases (Other Substituted Phosphate Groups))
DOI
10.1016/j.gene.2013.11.010
PMID
24316125
发布时间
2014-04-30
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Gene
294-8页
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