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A Missense Mutation in the LIM2 Gene Is Associated with Autosomal Recessive Presenile Cataract in an Inbred Iraqi Jewish Family

In an inbred Iraqi Jewish family, we have studied three siblings with presenile cataract first noticed between the ages of 20 and 51 years and segregating in an autosomal recessive mode. Using microsatellite repeat markers in close proximity to 25 genes and loci previously associated with congenital...

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Bibliografski detalji
Glavni autori: Pras, Eran, Levy-Nissenbaum, Etgar, Bakhan, Tangiz, Lahat, Hadas, Assia, Ehud, Geffen-Carmi, Noa, Frydman, Moshe, Goldman, Boleslaw, Pras, Elon
Format: Artigo
Jezik:Inglês
Izdano: The American Society of Human Genetics 2002
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC447612/
https://ncbi.nlm.nih.gov/pubmed/11917274
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