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

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

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

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Three Novel Mutations in the X-Linked Juvenile Retinoschisis (XLRS1) Gene in 6 Japanese Patients, 1 of Whom Had Turner’s Syndrome

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Ophthalmic Research, Vol. 35, Iss. 5, 2003-08 ,pp. : 295-300

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Choroideremia: Effect of age on visual acuity in patients and female carriers

By Coussa Razek Georges   Kim James   Traboulsi Elias I.  

Ophthalmic Genetics, Vol. 33, Iss. 2, 2012-06 ,pp. : 66-73

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Visual phenotype in patients with Arg41Gln and Ala196+1bp mutations in the CRX gene

By Tzekov Radouil T.   Sohocki Melanie M.   Daiger Stephen P.   Birch David G.  

Ophthalmic Genetics, Vol. 21, Iss. 2, 2000-06 ,pp. : 89-99

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