Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors.
about
Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature.The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine.Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype.Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.Homozygous PIGT Mutation Lead to Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3.
P2860
Q33815229-E6D75A95-501A-48AF-8E79-9847DE9C5948Q39446939-CE044BDC-1594-4D6E-A1DD-BFD673FA85DFQ40929545-1B4ED53A-D74E-4348-96A7-14B2D6FB099BQ42339981-C56548CC-562D-4862-8895-EDAE5B8149B6Q42428327-63C85446-F856-48A7-B1D2-953A28F84525Q47558052-E0E96F42-23D0-47DD-884D-40D97CBEFA6DQ55384921-C39E3256-A833-414B-9F67-F2BD313222DC
P2860
Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors.
description
2015 nî lūn-bûn
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2015年の論文
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2015年学术文章
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name
Expanding the clinical and mol ...... lphosphatidylinositol anchors.
@en
Expanding the clinical and mol ...... lphosphatidylinositol anchors.
@nl
type
label
Expanding the clinical and mol ...... lphosphatidylinositol anchors.
@en
Expanding the clinical and mol ...... lphosphatidylinositol anchors.
@nl
prefLabel
Expanding the clinical and mol ...... lphosphatidylinositol anchors.
@en
Expanding the clinical and mol ...... lphosphatidylinositol anchors.
@nl
P2093
P1476
Expanding the clinical and mol ...... lphosphatidylinositol anchors.
@en
P2093
Adolfo D Garnica
Andrea L Gropman
Carlos R Ferreira
Christina Lam
Cornelius F Boerkoel
David R Adams
Donna M Krasnewich
Eva H Baker
G Bradley Schaefer
Gretchen A Golas
P304
P356
10.1016/J.YMGME.2015.04.007
P577
2015-05-01T00:00:00Z