PMC Links for OMIM (Select 121015) - PMC

Select item 34134291.

A novel mutation in GJA3 associated with congenital Coppock-like cataract in a large Chinese family

Lu Zhang, Xin Qu, Sheng Su, Linan Guan, Ping Liu

Mol Vis. 2012; 18: 2114–2118. Published online 2012 Jul 26.

PMCID:: PMC3413429

Abstract Article PDF–1.8M

Select item 33390382.

A novel p.F206I mutation in Cx46 associated with autosomal dominant congenital cataract

Kai Jie Wang, Si Quan Zhu

Mol Vis. 2012; 18: 968–973. Published online 2012 Apr 18.

PMCID:: PMC3339038

Abstract Article PDF–1.1M

Select item 32720553.

Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese family

Xiaohui Zhang, Lina Wang, Jun Wang, Bing Dong, Yang Li

Mol Vis. 2012; 18: 203–210. Published online 2012 Jan 25.

PMCID:: PMC3272055

Abstract Article PDF–699K

Select item 27206224.

An Aberrant Sequence in a Connexin46 Mutant Underlies Congenital Cataracts

Peter J. Minogue, Xiaoqin Liu, Lisa Ebihara, Eric C. Beyer, Viviana M. Berthoud

J Biol Chem. Author manuscript; available in PMC 2009 Aug 4.

Published in final edited form as: J Biol Chem. 2005 Dec 9; 280(49): 40788–40795. Published online 2005 Oct 3. doi: 10.1074/jbc.M504765200

PMCID:: PMC2720622

Abstract Article PDF–2.5M

Select item 17358675.

A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance

K Burdon, M Wirth, D Mackey, I Russell-Eggitt, J Craig, J Elder, J Dickinson, M Sale

J Med Genet. 2004 Aug; 41(8): e106. doi: 10.1136/jmg.2004.018333

Correction in:: J Med Genet. 2005 Mar; 42(3): 288.

PMCID:: PMC1735867

Summary PDF–304K

Select item 13778716.

Connexin46 mutations in autosomal dominant congenital cataract.

D Mackay, A Ionides, Z Kibar, G Rouleau, V Berry, A Moore, A Shiels, S Bhattacharya

Am J Hum Genet. 1999 May; 64(5): 1357–1364. doi: 10.1086/302383

PMCID:: PMC1377871

Summary PDF–703K

Select item 1948957.

Lens Connexins α3Cx46 and α8Cx50 Interact with Zonula Occludens Protein-1 (ZO-1)

Peter A. Nielsen, Amos Baruch, Valery I. Shestopalov, Ben N.G. Giepmans, Irene Dunia, E. Lucio Benedetti, Nalin M. Kumar

Mol Biol Cell. 2003 Jun; 14(6): 2470–2481. doi: 10.1091/mbc.E02-10-0637

PMCID:: PMC194895

Abstract Article PDF–976K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from OMIM

Items: 7

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity