Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next‐Generation Sequencing-Reference-Cited by-同舟云学术

Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next‐Generation Sequencing

Published:2016-01-14 Issue:4 Volume:37 Page:371-384
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Ma Alan S.¹²³⁴,Grigg John R.¹⁵⁶,Ho Gladys³⁷,Prokudin Ivan¹,Farnsworth Elizabeth³⁷,Holman Katherine³⁷,Cheng Anson¹,Billson Frank A.¹⁵⁶,Martin Frank⁵⁶,Fraser Clare⁶,Mowat David⁸,Smith James⁵,Christodoulou John³⁴,Flaherty Maree¹⁵⁶,Bennetts Bruce³⁴⁷,Jamieson Robyn V.¹²³⁴

Affiliation:

1. Eye Genetics Research The Children's Hospital at Westmead Save Sight Institute Children's Medical Research Institute University of Sydney Sydney New South Wales Australia

2. Department of Clinical Genetics The Children's Hospital at Westmead Sydney New South Wales Australia

3. Western Sydney Genetics Program The Children's Hospital at Westmead Sydney New South Wales Australia

4. Discipline of Paediatrics and Child Health and Discipline of Genetic Medicine Sydney Medical School University of Sydney New South Wales Australia

5. Department of Ophthalmology The Children's Hospital at Westmead Sydney New South Wales Australia

6. Discipline of Ophthalmology Sydney Medical School University of Sydney New South Wales Australia

7. Department of Molecular Genetics The Children's Hospital at Westmead Sydney New South Wales Australia

8. Department of Medical Genetics Sydney Children's Hospital Sydney New South Wales Australia

Funder

Ophthalmic Research Institute of Australia

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.22948

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4. A novel missense mutation in the gene for gap‐junction protein alpha3 (GJA3) associated with autosomal dominant "nuclear punctate" cataracts linked to chromosome 13q;Bennett TM;Mol Vis,2004

5. Connexin Mutants and Cataracts

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