Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3
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Title
Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3
Authors
Keywords
Whole exome sequencing, <em class=EmphasisTypeItalic >PIGT</em>, Compound heterozygous mutations, Glycosylphosphatidylinositol-anchored protein, Multiple congenital anomalies-hypotonia-seizures syndrome 3, Hypophosphatasia
Journal
NEUROGENETICS
Volume 15, Issue 3, Pages 193-200
Publisher
Springer Nature
Online
2014-06-11
DOI
10.1007/s10048-014-0408-y
References
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Note: Only part of the references are listed.- Mutations in PGAP3 Impair GPI-Anchor Maturation, Causing a Subtype of Hyperphosphatasia with Mental Retardation
- (2014) Malcolm F. Howard et al. AMERICAN JOURNAL OF HUMAN GENETICS
- PGAP2 Mutations, Affecting the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation Syndrome
- (2013) Peter M. Krawitz et al. AMERICAN JOURNAL OF HUMAN GENETICS
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- (2013) Lars Hansen et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT
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- Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation
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- Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome
- (2012) Bobby G. Ng et al. AMERICAN JOURNAL OF HUMAN GENETICS
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- Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome
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- MutationTaster evaluates disease-causing potential of sequence alterations
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- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
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- Biosynthesis, Remodelling and Functions of Mammalian GPI-anchored Proteins: Recent Progress
- (2008) T. Kinoshita et al. JOURNAL OF BIOCHEMISTRY
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