homozygous pigt mutation lead to multiple congenital anomalies-hypotonia seizures syndrome 3
Clicks: 171
ID: 222689
2018
Article Quality & Performance Metrics
Overall Quality
Not rated
Combines reader engagement with the AI quality analysis. This
article has not been analysed, so there is no overall score —
reader engagement is measured and shown alongside.
Reader Engagement
Emerging Content
30.0
/100
171 views
20 readers
AI Quality Assessment
Not analyzed
Readership in this journal
EmergingRanked #235 of 264 articles by views in chemical record (new york, ny)
Most read
Least read
Bar heights use a square-root scale. Only the 120 most-read articles are drawn; the journal has 264 in total.
Mint this article as an NFT
Not yet mintedCreate a permanent, verifiable on-chain record of this article on the Scimatic Network. The NFT is held in your Journament account, and you can withdraw it to your own wallet at any time.
5
SUSD
one-off · no wallet required
Abstract
PIGT encodes a subunit of the glycosylphosphatidylinositol transamidase complex, which catalyzes the attachment of proteins to GPI-anchors. A homozygous PIGT variant c.550G>A (p. E184K) in a Chinese boy with multiple malformations, hypotonia, seizure and profound development delay was identified by panel sequencing. Pathogenicity of the variant was confirmed by flow cytometry. The expression of CD16 and CD24 of this proband reduced to 16.92 and 22.16% compare with normal control respectively while which of his parents and sister were normal. This mutation raised the mRNA level on the peripheral blood mono nuclear cells of this patient. This study expanded the variant spectrum of MCAHS3, and CD16 could be an effective marker to evaluate the pathogenicity of PIGT mutation.
| Reference Key |
yang2018frontiershomozygous
Use this key to autocite in the manuscript while using
SciMatic Manuscript Manager or Thesis Manager
|
|---|---|
| Authors | ;Li Yang;Jing Peng;Xiao-Meng Yin;Nan Pang;Chen Chen;Teng-Hui Wu;Xiao-Min Zou;Fei Yin;Fei Yin |
| Journal | chemical record (new york, ny) |
| Year | 2018 |
| DOI |
10.3389/fgene.2018.00153
|
| URL | |
| Keywords |
Citations
No citations found. To add a citation, contact the admin at info@scimatic.org
Comments
No comments yet. Be the first to comment on this article.