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。Mutations in PGAP3 Impair GPI-Anchor Maturation, Causing a Subtype of Hyperphosphatasia with Mental Retardation
Malcolm F. Howard et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
PGAP2 Mutations, Affecting the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation Syndrome
Peter M. Krawitz et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Hypomorphic Mutations in PGAP2, Encoding a GPI-Anchor-Remodeling Protein, Cause Autosomal-Recessive Intellectual Disability
Lars Hansen et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT
Peter M. Krawitz et al.
BLOOD (2013)
A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT
Malin Kvarnung et al.
JOURNAL OF MEDICAL GENETICS (2013)
The Phenotype of a Germline Mutation in PIGA: The Gene Somatically Mutated in Paroxysmal Nocturnal Hemoglobinuria
Jennifer J. Johnston et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation
Peter M. Krawitz et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome
Bobby G. Ng et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Mechanism for Release of Alkaline Phosphatase Caused by Glycosylphosphatidylinositol Deficiency in Patients with Hyperphosphatasia Mental Retardation Syndrome
Yoshiko Murakami et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2012)
An integrated map of genetic variation from 1,092 human genomes
David M. Altshuler et al.
NATURE (2012)
A framework for variation discovery and genotyping using next-generation DNA sequencing data
Mark A. DePristo et al.
NATURE GENETICS (2011)
A map of human genome variation from population-scale sequencing
David Altshuler et al.
NATURE (2010)
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome
Peter M. Krawitz et al.
NATURE GENETICS (2010)
A method and server for predicting damaging missense mutations
Ivan A. Adzhubei et al.
NATURE METHODS (2010)
MutationTaster evaluates disease-causing potential of sequence alterations
Jana Marie Schwarz et al.
NATURE METHODS (2010)
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Kai Wang et al.
NUCLEIC ACIDS RESEARCH (2010)
Biosynthesis, remodelling and functions of mammalian GPI-anchored proteins: Recent progress
Taroh Kinoshita et al.
JOURNAL OF BIOCHEMISTRY (2008)
Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency
Antonio M. Almeida et al.
NATURE MEDICINE (2006)
Mammalian PIG-X and yeast Pbn1p are the essential components of glycosylphosphatidylinositol-mannosyltransferase I
H Ashida et al.
MOLECULAR BIOLOGY OF THE CELL (2005)
PIG-S and PIG-T, essential for GPI anchor attachment to proteins, form a complex with GAA1 and GPI8
K Ohishi et al.
EMBO JOURNAL (2001)
分享论文
