A Novel CRYBB2 Missense Mutation Causing Congenital Autosomal Dominant Cataract in an Italian Family-Reference-Cited by-同舟云学术

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A Novel CRYBB2 Missense Mutation Causing Congenital Autosomal Dominant Cataract in an Italian Family

Published:2012-07-30 Issue:1-2 Volume:34 Page:115-117
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Faletra Flavio,d’Adamo Adamo Pio,Pensiero Stefano,Athanasakis Emmanouil,Catalano Dario,Bruno Irene,Gasparini Paolo

Publisher

Informa UK Limited

Subject

Genetics(clinical),Ophthalmology,Pediatrics, Perinatology, and Child Health

Link

http://www.tandfonline.com/doi/pdf/10.3109/13816810.2012.707273

Reference17 articles.

1. Molecular genetic basis of inherited cataract and associated phenotypes

2. Congenital eye malformations: Clinical-epidemiological analysis of 1,124,654 consecutive births in Spain

3. Congenital cataracts and their molecular genetics

4. Molecular characteristics of inherited congenital cataracts

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1. Conformational stability of the deamidated and mutated human βB2-crystallin;Biophysical Chemistry;2023-05

2. Targeted gene sequencing of FYCO1 identified a novel mutation in a Pakistani family for autosomal recessive congenital cataract;Molecular Genetics & Genomic Medicine;2022-05-31

3. Identification of a missense mutation in MIP gene via mutation analysis of a Guangxi Zhuang ethnic pedigree with congenital nuclear cataracts;Experimental and Therapeutic Medicine;2018-08-01

4. High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia;G3 Genes|Genomes|Genetics;2017-10-01

5. BetaB2-crystallin mutations associated with cataract and glaucoma leads to mitochondrial alterations in lens epithelial cells and retinal neurons;Experimental Eye Research;2017-02

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