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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA.

Congenital cataracts are a common major abnormality of the eye that frequently cause blindness in infants. At least a third of all cases are familial; autosomal dominant congenital cataract (ADCC) appears to be the most common familial form in the Western world. We have mapped an ADCC gene in family ADCC-2 to chromosome 21q22.3 near the alpha-crystallin gene CRYAA. By sequencing the coding regions of CRYAA, we found that a missense mutation, R116C, is associated with ADCC in this family.[1]

References

  1. Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA. Litt, M., Kramer, P., LaMorticella, D.M., Murphey, W., Lovrien, E.W., Weleber, R.G. Hum. Mol. Genet. (1998) [Pubmed]
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