Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes
about
Whole exome sequence analysis of Peters anomaly.Impaired ADAMTS9 secretion: A potential mechanism for eye defects in Peters Plus Syndrome.Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes.Unusual life cycle and impact on microfibril assembly of ADAMTS17, a secreted metalloprotease mutated in genetic eye disease.Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature.Functional characterization of zebrafish orthologs of the human Beta 3-Glucosyltransferase B3GLCT gene mutated in Peters Plus Syndrome.Peters plus syndrome mutations disrupt a noncanonical ER quality-control mechanism.Clinical utility gene card for: Peters plus syndrome.Defective B3GALTL does not transfer glucose to O-fucosyl-proteinsB3GALTL transfers glucose to O-fucosyl-proteins8q21.11 microdeletion in two patients with syndromic peters anomaly.
P2860
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P2860
Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes
description
2013 nî lūn-bûn
@nan
2013 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի սեպտեմբերին 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
Novel B3GALTL mutations in cla ...... tients with similar phenotypes
@ast
Novel B3GALTL mutations in cla ...... tients with similar phenotypes
@en
type
label
Novel B3GALTL mutations in cla ...... tients with similar phenotypes
@ast
Novel B3GALTL mutations in cla ...... tients with similar phenotypes
@en
prefLabel
Novel B3GALTL mutations in cla ...... tients with similar phenotypes
@ast
Novel B3GALTL mutations in cla ...... tients with similar phenotypes
@en
P2093
P2860
P356
P1433
P1476
Novel B3GALTL mutations in cla ...... tients with similar phenotypes
@en
P2093
E V Semina
J C Murray
T L McGregor
P2860
P304
P356
10.1111/CGE.12241
P577
2013-09-17T00:00:00Z