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。Critical roles for the COOH terminus of the Cu-ATPase ATP7B in protein stability, trans-Golgi network retention, copper sensing, and retrograde trafficking
L. Braiterman et al.
AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY (2011)
Exome Sequencing Allows for Rapid Gene Identification in a Charcot-Marie-Tooth Family
Gladys Montenegro et al.
ANNALS OF NEUROLOGY (2011)
The Expanding Horizons of Asparagine-Linked Glycosylation
Angelyn Larkin et al.
BIOCHEMISTRY (2011)
Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation
Melanie A. Jones et al.
GENETICS IN MEDICINE (2011)
Novel Genomic Techniques Open New Avenues in the Analysis of Monogenic Disorders
Gregor Kuhlenbaeumer et al.
HUMAN MUTATION (2011)
How to find and diagnose a CDG due to defective N-glycosylation
Dirk J. Lefeber et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2011)
Exome sequencing: a transformative technology
Andrew B. Singleton
LANCET NEUROLOGY (2011)
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss
Michael A. Simpson et al.
NATURE GENETICS (2011)
Exome sequencing as a tool for Mendelian disease gene discovery
Michael J. Bamshad et al.
NATURE REVIEWS GENETICS (2011)
Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation
Dirk J. Lefeber et al.
PLOS GENETICS (2011)
Unlocking Mendelian disease using exome sequencing
Christian Gilissen et al.
GENOME BIOLOGY (2011)
Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome
Christian Gilissen et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome
Sarah B. Pierce et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Next-Generation Sequencing of a 40 Mb Linkage Interval Reveals TSPAN12 Mutations in Patients with Familial Exudative Vitreoretinopathy
Konstantinos Nikopoulos et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Congenital disorders of glycosylation
Jaak Jaeken
YEAR IN HUMAN AND MEDICAL GENETICS: NEW TRENDS IN MENDELIAN GENETICS (2010)
A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism
Eva Morava et al.
BRAIN (2010)
SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
Vincent Cantagrel et al.
CELL (2010)
Guanosine diphosphate-mannose: GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations
T. Dupre et al.
JOURNAL OF MEDICAL GENETICS (2010)
Exome sequencing identifies the cause of a mendelian disorder
Sarah B. Ng et al.
NATURE GENETICS (2010)
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
Alexander Hoischen et al.
NATURE GENETICS (2010)
A de novo paradigm for mental retardation
Lisenka E. L. M. Vissers et al.
NATURE GENETICS (2010)
Deficiency of Dol-P-Man Synthase Subunit DPM3 Bridges the Congenital Disorders of Glycosylation with the Dystroglycanopathies
Dirk J. Lefeber et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Congenital Disorders of Glycosylation: An Update on Defects Affecting the Biosynthesis of Dolichol-Linked Oligosaccharides
Micha A. Haeuptle et al.
HUMAN MUTATION (2009)
Congenital disorder of glycosylation type Ix:: Review of clinical spectrum and diagnostic steps
E. Morava et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2008)
Solution structure of Alg13: The sugar donor subunit of a yeast N-acetylglucosamine transferase
Xu Wang et al.
STRUCTURE (2008)
Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia
L Sturiale et al.
GLYCOBIOLOGY (2005)
Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik
M Schwarz et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Deficiency of UDP-GlcNAc:dolichol phosphate N-acetylglucosamine-1 phosphate transferase (DPAGT1) causes a novel congenital disorder of glycosylation type Ij
XH Wu et al.
HUMAN MUTATION (2003)
A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis
C Thiel et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
Deficiency of dolichyl-P-Man:: Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig
C Thiel et al.
BIOCHEMICAL JOURNAL (2002)
The 1.9 Å crystal structure of Escherichia coli MurG, a membrane-associated glycosyltransferase involved in peptidoglycan biosynthesis
S Ha et al.
PROTEIN SCIENCE (2000)