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Volume 25 Issue 4
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Ophthalmic Genetics
, Volume
25
Issue 4 2004
Official Journal of the International Society for Genetic Eye Disease and Retinoblastoma
ISSN:
1744-5094 (electronic) 1381-6810 (paper)
Publication Frequency:
4 issues per year
Subjects:
Genetics
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Ophthalmology
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Publisher:
Informa Healthcare
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Mutations in KIF21A are responsible for CFEOM1 worldwide
Elias Traboulsi; Elizabeth Engle
Pages 237 – 239
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Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients
Leila Tiab; Violaine d'Allèves Manzi; François-Xavier Borruat; Francis Munier; Daniel Schorderet
Pages 241 – 246
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Mutation analysis of the
KIF21A
gene in an Indian family with CFEOM1: implication of CpG methylation for most frequent mutations
Mahmood Ali; Conjeevaram Venkatesh; Anitha Ragunath; Arun Kumar
Pages 247 – 255
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Molecular basis of Peters anomaly in Saudi Arabia
Deepak Edward; Ali Al Rajhi; Richard Alan Lewis; Stacey Curry; Zongren Wang; Bassem Bejjani
Pages 257 – 270
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Fundus features of a case of neurocutaneous melanosis
Hayyam Kıratlı; Afsun Şahin
Pages 271 – 276
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Autosomal dominant brachydactyly, coloboma and anterior segment dysgenesis
S. M. Quinn; G. C. M. Black; S. Biswas; J. Clayton-Smith; I. C. Lloyd
Pages 277 – 283
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Robert Koenekoop
Pages 285 – 288
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Erratum
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