Mutations in SCO2 are associated with autosomal-dominant high-grade myopia
about
SLC39A5 mutations interfering with the BMP/TGF-β pathway in non-syndromic high myopiaMitochondrial cytochrome c oxidase deficiencyAdvances in the genomics of common eye diseasesGenome-wide association studies of refractive error and myopia, lessons learned, and implications for the futureConcise Review: Using Stem Cells to Prevent the Progression of Myopia-A ConceptTrio-based exome sequencing arrests de novo mutations in early-onset high myopiaMutational screening of SLC39A5, LEPREL1 and LRPAP1 in a cohort of 187 high myopia patients.New ZNF644 mutations identified in patients with high myopiaDevelopments in Ocular Genetics: 2013 Annual ReviewPost-translationally abnormal collagens of prolyl 3-hydroxylase-2 null mice offer a pathobiological mechanism for the high myopia linked to human LEPREL1 mutations.Childhood febrile illness and the risk of myopia in UK Biobank participantsNo Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction.Childhood gene-environment interactions and age-dependent effects of genetic variants associated with refractive error and myopia: The CREAM Consortium.Exome Sequence Analysis of 14 Families With High Myopia.One gene, many neuropsychiatric disorders: lessons from Mendelian diseases.Clinical prediction of the need for interventions for the control of myopia.Association and interaction of myopia with SNP markers rs13382811 and rs6469937 at ZFHX1B and SNTB1 in Han Chinese and European populations.Copper transporters and chaperones: Their function on angiogenesis and cellular signalling.Association between SCO2 mutation and extreme myopia in Japanese patients.Homozygous loss-of-function mutation of the LEPREL1 gene causes severe non-syndromic high myopia with early-onset cataract.Associations between CRYBA4 gene variants and high myopia in a Japanese population.Insight into the molecular genetics of myopia.Mutations in DZIP1 and XYLT1 are associated with nonsyndromic early onset high myopia in the Korean population.Mutations of P4HA2 encoding prolyl 4-hydroxylase 2 are associated with nonsyndromic high myopia.Low prevalence of myopia among school children in rural China.Exome sequencing study of 20 patients with high myopiaHuman diseases associated with defects in assembly of OXPHOS complexesGenome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error
P2860
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P2860
Mutations in SCO2 are associated with autosomal-dominant high-grade myopia
description
2013 nî lūn-bûn
@nan
2013 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի մայիսին 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
Mutations in SCO2 are associated with autosomal-dominant high-grade myopia
@ast
Mutations in SCO2 are associated with autosomal-dominant high-grade myopia
@en
Mutations in SCO2 are associated with autosomal-dominant high-grade myopia
@en-gb
Mutations in SCO2 are associated with autosomal-dominant high-grade myopia
@nl
type
label
Mutations in SCO2 are associated with autosomal-dominant high-grade myopia
@ast
Mutations in SCO2 are associated with autosomal-dominant high-grade myopia
@en
Mutations in SCO2 are associated with autosomal-dominant high-grade myopia
@en-gb
Mutations in SCO2 are associated with autosomal-dominant high-grade myopia
@nl
prefLabel
Mutations in SCO2 are associated with autosomal-dominant high-grade myopia
@ast
Mutations in SCO2 are associated with autosomal-dominant high-grade myopia
@en
Mutations in SCO2 are associated with autosomal-dominant high-grade myopia
@en-gb
Mutations in SCO2 are associated with autosomal-dominant high-grade myopia
@nl
P2093
P2860
P50
P3181
P1476
Mutations in SCO2 are associated with autosomal-dominant high-grade myopia
@en
P2093
Caldwell Powell
Candice Ho
Erica Nading
Georg Schneider
Khanh-Nhat Tran-Viet
Ravikanth Metlapally
Steve Rozen
Tammy Yanovitch
Terri L Young
P2860
P3181
P356
10.1016/J.AJHG.2013.04.005
P407
P577
2013-05-02T00:00:00Z