Human genetic disorders involving glycosylphosphatidylinositol (GPI) anchors and glycosphingolipids (GSL)

Human genetic disorders involving glycosylphosphatidylinositol (GPI) anchors and glycosphingolipids (GSL)

Item
http://www.wikidata.org/entity/Q27021835
Neurological aspects of human glycosylation disordersAnalysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.Genome-Wide Screening of Genes Required for Glycosylphosphatidylinositol Biosynthesis.Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy.Array comparative genomic hybridization and genomic sequencing in the diagnostics of the causes of congenital anomalies.PIGO deficiency: palmoplantar keratoderma and novel mutationsCompound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease.Comment on "Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome".A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2.A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly.
P2860

Human genetic disorders involving glycosylphosphatidylinositol (GPI) anchors and glycosphingolipids (GSL)

Item
http://www.wikidata.org/entity/Q27021835
description
2015 nî lūn-bûn
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2015 թուականի Յունուարին հրատարակուած գիտական յօդուած
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2015 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2015年の論文
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2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
Human genetic disorders involv ...... s and glycosphingolipids (GSL)
@ast
Human genetic disorders involv ...... s and glycosphingolipids (GSL)
@en
Human genetic disorders involv ...... s and glycosphingolipids (GSL)
@nl
type
label
Human genetic disorders involv ...... s and glycosphingolipids (GSL)
@ast
Human genetic disorders involv ...... s and glycosphingolipids (GSL)
@en
Human genetic disorders involv ...... s and glycosphingolipids (GSL)
@nl
prefLabel
Human genetic disorders involv ...... s and glycosphingolipids (GSL)
@ast
Human genetic disorders involv ...... s and glycosphingolipids (GSL)
@en
Human genetic disorders involv ...... s and glycosphingolipids (GSL)
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P407
P433
P478
P50
P577
P6179
P698
P932
P356
P1433
P1476
Human genetic disorders involv ...... s and glycosphingolipids (GSL)
@en
P2093
P2860
P2888
P304
P31
P356
P407
P433
P478
P50
P577
P6179
P698
P932