A homozygous mutation in LTBP2 causes isolated microspherophakia.
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Latent TGF-β binding protein-2 is essential for the development of ciliary zonule microfibrilsA Mutation in LTBP2 Causes Congenital Glaucoma in Domestic Cats (Felis catus)Identification of Novel Variants in LTBP2 and PXDN Using Whole-Exome Sequencing in Developmental and Congenital GlaucomaWhole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome.Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations.Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation.LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population.Glaucoma in iran and contributions of studies in iran to the understanding of the etiology of glaucoma.A stochastic model of eye lens growth.LTBP-2 Has a Single High-Affinity Binding Site for FGF-2 and Blocks FGF-2-Induced Cell Proliferation.A Possible Role for LTBP2 in the Etiology of Primary Angle Closure Glaucoma.Contribution of the latent transforming growth factor-β binding protein 2 gene to etiology of primary open angle glaucoma and pseudoexfoliation syndrome.Screening of the LTBP2 gene in 214 Chinese sporadic CYP1B1-negative patients with primary congenital glaucomaRetropupillary iris-claw intraocular lens for the surgical correction of aphakia in cases with microspherophakia.The lens growth process.Latent TGF-β binding protein 2 and 4 have essential overlapping functions in microfibril development.Biological functions of fucose in mammals.Primary congenital and developmental glaucomas.Common Molecular Challenges in Glaucoma.LTBP2 gene analysis in the GLC3C-linked family and 94 CYP1B1-negative cases with primary congenital glaucoma.Clinical spectrum and surgical outcomes in spherophakia: a prospective interventional study.Insight into the molecular genetics of myopia.Autozygosity in a Turkish family with scoliosis, blindness, and arachnodactyly syndrome.Regulation of TGF-β storage and activation in the human idiopathic pulmonary fibrosis lung.LTBP2 promotes the migration and invasion of gastric cancer cells and predicts poor outcome of patients with gastric cancer.Expansion of the clinical ocular spectrum of Wolfram Syndrome in a family carrying a novel WFS1 gene deletion.Next-generation sequencing reveals a new mutation in the LTBP2 gene associated with microspherophakia in a Spanish family.
P2860
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P2860
A homozygous mutation in LTBP2 causes isolated microspherophakia.
description
2010 nî lūn-bûn
@nan
2010 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
A homozygous mutation in LTBP2 causes isolated microspherophakia.
@ast
A homozygous mutation in LTBP2 causes isolated microspherophakia.
@en
A homozygous mutation in LTBP2 causes isolated microspherophakia.
@nl
type
label
A homozygous mutation in LTBP2 causes isolated microspherophakia.
@ast
A homozygous mutation in LTBP2 causes isolated microspherophakia.
@en
A homozygous mutation in LTBP2 causes isolated microspherophakia.
@nl
prefLabel
A homozygous mutation in LTBP2 causes isolated microspherophakia.
@ast
A homozygous mutation in LTBP2 causes isolated microspherophakia.
@en
A homozygous mutation in LTBP2 causes isolated microspherophakia.
@nl
P2093
P1433
P1476
A homozygous mutation in LTBP2 causes isolated microspherophakia.
@en
P2093
Arun Kumar
Gowri J Murthy
Jyoti S Shetty
Maheswara R Duvvari
Susan H Blanton
Venkatesh C Prabhakaran
P2860
P2888
P304
P356
10.1007/S00439-010-0858-8
P577
2010-07-09T00:00:00Z
P5875
P6179
1000623073