Mutations in KIF21A are responsible for CFEOM1 worldwide

By Traboulsi Elias   Engle Elizabeth  

Ophthalmic Genetics, Vol. 25, Iss. 4, 2004-12 ,pp. : 237-239

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Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients

By Tiab Leila   Manzi Violaine d'Allèves   Borruat François-Xavier   Munier Francis   Schorderet Daniel  

Ophthalmic Genetics, Vol. 25, Iss. 4, 2004-12 ,pp. : 241-246

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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

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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Clinical Phenotype in a Swedish Family with a Mutation in the IMPDH1 Gene

By Schatz Patrik   Ponjavic Vesna   Andréasson Sten   McGee Terri   Dryja Thaddeus   Abrahamson Magnus  

Ophthalmic Genetics, Vol. 26, Iss. 3, 2005-09 ,pp. : 119-124

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