标题
Mutations in STT3A and STT3B cause two congenital disorders of glycosylation
作者
关键词
-
出版物
HUMAN MOLECULAR GENETICS
Volume 22, Issue 22, Pages 4638-4645
出版商
Oxford University Press (OUP)
发表日期
2013-07-11
DOI
10.1093/hmg/ddt312
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Understanding Human Glycosylation Disorders: Biochemistry Leads the Charge
- (2013) Hudson H. Freeze JOURNAL OF BIOLOGICAL CHEMISTRY
- Extreme C-terminal sites are posttranslocationally glycosylated by the STT3B isoform of the OST
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- DDOST Mutations Identified by Whole-Exome Sequencing Are Implicated in Congenital Disorders of Glycosylation
- (2012) Melanie A. Jones et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Diseases of glycosylation beyond classical congenital disorders of glycosylation
- (2012) Thierry Hennet BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS
- A sensitive green fluorescent protein biomarker of N-glycosylation site occupancy
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- Glycosylation disorders of membrane trafficking
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- Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG
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- Neurology of inherited glycosylation disorders
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- (2012) Takashi Sato et al. MOLECULAR CELL
- Nogo-B receptor is necessary for cellular dolichol biosynthesis and proteinN-glycosylation
- (2011) Kenneth D Harrison et al. EMBO JOURNAL
- The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation
- (2011) Luisa Sturiale et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Cotranslational and Posttranslational N-Glycosylation of Polypeptides by Distinct Mammalian OST Isoforms
- (2009) Catalina Ruiz-Canada et al. CELL
- A Defect in the TUSC3 Gene Is Associated with Autosomal Recessive Mental Retardation
- (2008) Masoud Garshasbi et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation
- (2008) Florence Molinari et al. AMERICAN JOURNAL OF HUMAN GENETICS
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