LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population

Primary congenital glaucoma (PCG) is a genetically heterogeneous autosomal recessive disorder, which is an important cause of blindness in childhood. The first known gene, CYP1B1, accounts for a variable proportion of cases in most populations. A second gene, LTBP2, was recently reported in associat...

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Auteurs principaux: Azmanov, Dimitar N, Dimitrova, Stanislava, Florez, Laura, Cherninkova, Sylvia, Draganov, Dragomir, Morar, Bharti, Saat, Rosmawati, Juan, Manel, Arostegui, Juan I, Ganguly, Sriparna, Soodyall, Himla, Chakrabarti, Subhabrata, Padh, Harish, López-Nevot, Miguel A, Chernodrinska, Violeta, Anguelov, Botio, Majumder, Partha, Angelova, Lyudmila, Kaneva, Radka, Mackey, David A, Tournev, Ivailo, Kalaydjieva, Luba
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group 2011
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3062003/
https://ncbi.nlm.nih.gov/pubmed/21081970
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.181
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