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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...

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Autori principali: Ponnam, Surya Prakash G., Ramesha, Kekunnaya, Tejwani, Sushma, Matalia, Jyoti, Kannabiran, Chitra
Natura: Artigo
Lingua:Inglês
Pubblicazione: Molecular Vision 2008
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2442473/
https://ncbi.nlm.nih.gov/pubmed/18596884
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