Congenital Cataracts

Research on congenital cataracts discussed by L.M. Gonzalezhuerta and co-researchers

Published in Hospital Law Weekly, November 8th, 2007

" To describe a family with primary congenital cataract associated with a CRYGC mutation. One family with several affected members with primary congenital cataract and 170 healthy controls were examined," scientists in Mexico report.

"DNA from leukocytes was isolated to analyze the CRYGA-D gene cluster. DNA sequencing analysis of the CRYGA-D gene cluster of the affected members showed the heterozygous missense mutation c.502C >T in the CRYGC gene. This transition mutation resulted in the substitution of Arg at position 168 by Trp. Analysis of the healthy members of the family and 170 unrelated controls showed a normal sequence of the CRYGA-D gene cluster. In the...

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Source: Hospital Law Weekly (2007-11-08)

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