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A missense mutation in LIM2 causes autosomal recessive congenital cataract
PURPOSE: To identify mutations in the LIM2 gene in families with hereditary congenital or juvenile-onset cataract. METHODS: Forty families (total of 100 affected and 84 unaffected individuals) were recruited for the study. Probands were screened for pathogenic alterations in 10 different candidate g...
Autores principales: | Ponnam, Surya Prakash G., Ramesha, Kekunnaya, Tejwani, Sushma, Matalia, Jyoti, Kannabiran, Chitra |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Molecular Vision
2008
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2442473/ https://www.ncbi.nlm.nih.gov/pubmed/18596884 |
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