Common and rare genetic risk factors for glaucoma. - Wikidata - awgldk - TriplyDB

Common and rare genetic risk factors for glaucoma.

Common and rare genetic risk factors for glaucoma.

http://www.wikidata.org/entity/Q34930464

about

Carrier frequency of CYP1B1 mutations in the United States (an American Ophthalmological Society thesis).Genes, pathways, and animal models in primary open-angle glaucoma.Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity.Genetics of Primary Inherited Disorders of the Optic Nerve: Clinical Applications.Identification and functional analysis of an ADAMTSL1 variant associated with a complex phenotype including congenital glaucoma, craniofacial, and other systemic features in a three-generation human pedigree.Angiopoietin receptor TEK interacts with CYP1B1 in primary congenital glaucoma.Caveolins and caveolae in ocular physiology and pathophysiology.Major review: Molecular genetics of primary open-angle glaucoma.Genomic locus modulating corneal thickness in the mouse identifies POU6F2 as a potential risk of developing glaucoma.The African Descent and Glaucoma Evaluation Study (ADAGES) III: Contribution of Genotype to Glaucoma Phenotype in African Americans: Study Design and Baseline Data.

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Common and rare genetic risk factors for glaucoma.

http://www.wikidata.org/entity/Q34930464

description

2014 nî lūn-bûn

@nan

2014 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի սեպտեմբերին հրատարակված գիտական հոդված

@hy

2014年の論文

@ja

2014年論文

@yue

2014年論文

@zh-hant

2014年論文

@zh-hk

2014年論文

@zh-mo

2014年論文

@zh-tw

2014年论文

@wuu

name

Common and rare genetic risk factors for glaucoma.

@ast

Common and rare genetic risk factors for glaucoma.

@en

Common and rare genetic risk factors for glaucoma.

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type

label

Common and rare genetic risk factors for glaucoma.

@ast

Common and rare genetic risk factors for glaucoma.

@en

Common and rare genetic risk factors for glaucoma.

@nl

prefLabel

Common and rare genetic risk factors for glaucoma.

@ast

Common and rare genetic risk factors for glaucoma.

@en

Common and rare genetic risk factors for glaucoma.

@nl

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CSHPERSPECT.A017244

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Cold Spring Harbor Perspectives in Medicine

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Common and rare genetic risk factors for glaucoma.

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Janey L Wiggs

http://www.w3.org/2001/XMLSchema#string

Ryan Wang

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P2860

Association of genetic variants with primary angle closure glaucoma in two different populations

Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly.

Expression of the Mf1 gene in developing mouse hearts: implication in the development of human congenital heart defects

Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21

A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen

Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome

Enhanced binding of TBK1 by an optineurin mutant that causes a familial form of primary open angle glaucoma

Fine mapping of new glaucoma locus GLC1M and exclusion of neuregulin 2 as the causative gene

Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome

Autosomal dominant Axenfeld-Rieger anomaly maps to 6p25

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a017244

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scholarly article

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10.1101/CSHPERSPECT.A017244

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12

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