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Ophthalmic Genetics, Volume 25 Issue 2 2004

Ophthalmic Genetics is moving!
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; Ophthalmology;
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Leber congenital amaurosis: a genetic paradigm
Rando Allikmets
Pages 67 – 79
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Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4 mutations (H69Y and C181R)
Satoshi Omoto;  Takaaki Hayashi;  Kenji Kitahara;  Tomokazu Takeuchi; Yasuo Ueoka
Pages 81 – 90
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Clinical relevance of optineurin sequence alterations in Japanese glaucoma patients
Tomoko Umeda;  Toshihiko Matsuo;  Mikio Nagayama;  Naoyuki Tamura;  Yuko Tanabe; Hiroshi Ohtsuki
Pages 91 – 99
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Rab escort protein 1 (REP1) in intracellular traffic: a functional and pathophysiological overview
Markus N. Preising; Carmen Ayuso
Pages 101 – 110
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Evaluation of the ARMD1 locus on 1q25–31 in patients with age-related maculopathy: genetic variation in laminin genes and in exon 104 of HEMICENTIN-1
M. Hayashi;  J. E. Merriam;  C. C. W. Klaver;  J. Zernant;  A. A. Bergen;  R. T. Smith;  S. Chang;  J. C. Merriam; R. Allikmets
Pages 111 – 119
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Refinement of the X-linked cataract locus (CXN) and gene analysis for CXN and Nance-Horan syndrome (NHS)
Simon P. Brooks;  Neil D. Ebenezer;  Subathra Poopalasundaram;  Eamonn R. Maher;  Peter J. Francis;  Anthony T. Moore; Alison J. Hardcastle
Pages 121 – 131
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A novel RDS/peripherin gene mutation associated with diverse macular phenotypes
Zhenglin Yang;  Yang Li;  Li Jiang;  Goutam Karan;  Darius M. Moshfeghi;  Scott T. O'Connor;  Xi Li;  Zhengya Yu;  Hilel Lewis;  Donald J. Zack;  Samuel G. Jacobson; Kang Zhang
Pages 133 – 145
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A novel KERA mutation associated with autosomal recessive cornea plana
Arif O. Khan; Marios Kambouris
Pages 147 – 152
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Ocular findings in ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome
Elias I. Traboulsi;  Naji Waked;  Hala Mégarbané; André Mégarbané
Pages 153 – 156
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Peters' anomaly
Gerald W. Zaidman
Pages 157 – 158
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