Mutation screening in autosomal dominant congenital cataract families from North India
Author:
Funder
Indian Council of Medical Research
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s00438-023-02053-x.pdf
Reference50 articles.
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2. Andley UP (2007) Crystallins in the eye: function and pathology. Prog Retin Eye Res 26(1):78–98. https://doi.org/10.1016/j.preteyeres.2006.10.003
3. Banks EA, Toloue MM et al (2009) Connexin mutation that causes dominant congenital cataracts inhibits gap junctions, but not hemichannels, in a dominant negative manner. J Cell Sci 122(Pt 3):378–388. https://doi.org/10.1242/jcs.034124
4. Bateman JB, Spence MA et al (1986) Genetic linkage analysis of autosomal dominant congenital cataracts. Am J Ophthalmol 101(2):218–225. https://doi.org/10.1016/0002-9394(86)90599-4
5. Bateman JB, von-Bischhoffshaunsen FRB et al (2007) Gene conversion mutation in crystallin, β-B2 (CRYBB2) in a Chilean Family with autosomal dominant cataract. Ophthalmol 114(3):425–432. https://doi.org/10.1016/j.ophtha.2006.09.013
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