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

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

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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

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