Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2)

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GJB2 and GJB6 genes and the A1555G mitochondrial mutation are only minor causes of nonsyndromic hearing loss in the Qatari population

By Khalifa Alkowari M.   Girotto G.   Abdulhadi K.   Dipresa S.   Siam R.   Najjar N.   Badii R.   Gasparini P.  

International Journal of Audiology, Vol. 51, Iss. 3, 2012-03 ,pp. : 181-185

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Phenotypic variability in three carriers from a family with choroideremia and a frameshift mutation 1388delCCinsG in the REP-1 gene

By Rudolph Günther   Preising Markus   Kalpadakis Petros   Haritoglou Christos   Lang Gabriele E.   Lorenz Birgit  

Ophthalmic Genetics, Vol. 24, Iss. 4, 2003-12 ,pp. : 203-214

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Phenotypic variability in three carriers from a family with choroideremia and a frameshift mutation 1388delCCinsG in the REP-1 gene

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Ophthalmic Genetics, Vol. 25, Iss. 1, 2004-03 ,pp. : 65-66

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CFB/C2 Gene Polymorphisms and Risk of Age-Related Macular Degeneration: A Systematic Review and Meta-Analysis

By Sun Chuan   Zhao Min   Li Xiaoxin  

Current Eye Research, Vol. 37, Iss. 4, 2012-04 ,pp. : 259-271

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