Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome.
about
Glycosyl phosphatidylinositol anchor biosynthesis is essential for maintaining epithelial integrity during Caenorhabditis elegans embryogenesisNull mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathyAnalysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.Biosynthesis of GPI-anchored proteins: special emphasis on GPI lipid remodeling.pigk Mutation underlies macho behavior and affects Rohon-Beard cell excitability.Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficienciesPathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties.PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation.Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2.
P2860
Q27311382-D2ED7F23-0D31-43FD-9CE9-49AC578379D0Q33553032-B20DF4BD-EC66-4EAC-9784-5B3A1E9D20A9Q33815229-99C38BB1-6A78-4869-B893-E9A1C6CC92B2Q34045400-CA93CAB6-A3B1-4607-97B8-8AED610184AAQ35969473-6F6B0239-8134-4592-999A-B51FA43018F3Q36142388-B6EC6123-EFDA-434F-B3E9-5691DE6111F3Q36802217-1C3FA7A5-E2FE-4C25-BE3A-46967B7A5FA1Q38710860-D2E92CAA-DFA8-49E3-8AB5-5C804E29CEECQ41920155-627BDA23-2D1F-4249-A131-4491E3C6703BQ47558052-90AC6008-731D-4234-B766-0225988E326DQ52147061-0F2FBB7C-DE5D-4592-A80A-833AA9491A80
P2860
Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome.
description
2013 nî lūn-bûn
@nan
2013 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Delineation of PIGV mutation s ...... h mental retardation syndrome.
@ast
Delineation of PIGV mutation s ...... h mental retardation syndrome.
@en
type
label
Delineation of PIGV mutation s ...... h mental retardation syndrome.
@ast
Delineation of PIGV mutation s ...... h mental retardation syndrome.
@en
prefLabel
Delineation of PIGV mutation s ...... h mental retardation syndrome.
@ast
Delineation of PIGV mutation s ...... h mental retardation syndrome.
@en
P2093
P2860
P50
P356
P1476
Delineation of PIGV mutation s ...... h mental retardation syndrome.
@en
P2093
Dagmar Wieczorek
Denise Horn
Jens Koenig
Kay Metcalfe
Lidija Paležac
Stephanie Demuth
Tobias Linden
Ulrike Krüger
P2860
P2888
P304
P356
10.1038/EJHG.2013.241
P577
2013-10-16T00:00:00Z