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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Visual impairment and REP-1 gene mutations in Japanese choroideremia patients

By Hayakawa M.   Fujiki K.   Hotta Y.   Ito R.   Ohki J.   Ono J.   Saito A.   Nakayasu K.   Kanai A.   Ishidoh K.   Kominami E.   Yoshida K.   Kim K.C.   Ohashi H.  

Ophthalmic Genetics, Vol. 20, Iss. 2, 1999-06 ,pp. : 107-115

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R124C Mutation of the βIGH3 Gene Leads to Remarkable Phenotypic Variability in a Greek Four-Generation Family with Lattice Corneal Dystrophy Type 1

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Ophthalmologica, Vol. 215, Iss. 6, 2001-11 ,pp. : 444-447

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A Colombian family with X-linked juvenile retinoschisis with three affected females: Finding of a frameshift mutation

By Mendoza-Londono R.   Hiriyanna K.T.   Bingham E.L.   Rodriguez F.   Shastry B.S.   Rodriguez A.   Sieving P.A.   Tamayo M.L.  

Ophthalmic Genetics, Vol. 20, Iss. 1, 1999-03 ,pp. : 37-43

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Mutation analysis of the KIF21A gene in an Indian family with CFEOM1: implication of CpG methylation for most frequent mutations

By Ali Mahmood   Venkatesh Conjeevaram   Ragunath Anitha   Kumar Arun  

Ophthalmic Genetics, Vol. 25, Iss. 4, 2004-12 ,pp. : 247-255

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