Citations for
1GJA8, CZP1
A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts.
Arora A, Minogue PJ, Liu X, Addison PK, Russel-Eggitt I, Webster AR, Hunt DM, Ebihara L, Beyer EC, Berthoud VM, Moore AT.
J Med Genet 45(3):155-60. Epub 2007 Nov 15. 2008
2CZP1, GJA8
A novel connexin 50 (GJA8) mutation in a Chinese family with a dominant congenital pulverulent nuclear cataract.
Yan M, Xiong C, Ye SQ, Chen Y, Ke M, Zheng F, Zhou X.
Mol Vis 14:418-24.PMID: 18334966 2008
3ADCC1, CCL, CRYAA, CRYGD, CZP1, GJA8
Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.
Hansen L, Yao W, Eiberg H, Kjaer KW, Baggesen K, Hejtmancik JF, Rosenberg T.
Invest Ophthalmol Vis Sci 48(9):3937-44. 2007
4CZP1, GJA8
The cataract-inducing S50P mutation in Cx50 dominantly alters the channel gating of wild-type lens connexins.
DeRosa AM, Xia CH, Gong X, White TW.
J Cell Sci 120(Pt 23):4107-16. Epub 2007 Nov 14.PMID: 18003700 2007
5GJA8, CZP1
Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea.
Devi RR, Vijayalakshmi P.
Mol Vis 12:190-5. 2006
6CZP1, GJA8
A novel mutation in GJA8 associated with autosomal dominant congenital cataract in a family of Indian origin.
Vanita V, Hennies HC, Singh D, Nürnberg P, Sperling K, Singh JR.
Mol Vis 12:1217-22. 2006
7ADCC1, CRYAA, CZP1, GJA8
Genetically distinct autosomal dominant posterior polar cataract in a four-generation Japanese family.
Yamada K, Tomita HA, Kanazawa S, Mera A, Amemiya T, Niikawa N.
Am J Ophthalmol 129(2):159-65. 2000
8CZP1, GJA8
Connexin 50 mutation in a family with congenital zonular nuclear pulverulent cataract of Pakistani origin.
Berry V, et al.
Hum Genet 105(1-2):168-70. 1999
9CZP1, GJA8
A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant zonular pulverulent cataract, on chromosome 1q.
Shiels A, et al.
Am J Hum Genet 62 : 526-532. 1998
10CZP1, GJA8
Regional mapping of the human MP70 (Cx50; connexin 50) gene by fluorescence in situ hybridization to 1q21.1.
Geyer DD, et al.
Mol Vis http/www.emory.edu/molvis/v3/geyer 1997
11CZP1, CCL
Genetic linkage analysis of autosomal dominant congenital cataracts.
Bateman JB, et al.
Am J Ophthalmol 101 : 218-225. 1986
12CZP1, CCL
Confirmation of genetic heterogeneity in autosomal dominant forms of congenital cataracts from linkage studies.
Conneally PM, et al.
Cytogenet Cell Genet 22 : 295-297. 1978
13CZP1, CCL
Probable linkage between a congenital cataract locus and the Duffy blood group locus.
Renwick JH, et al.
Ann Hum Genet 27 : 67-86. 1963