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| Pakistan Research Repository | Home |
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Title of Thesis Genetics of Eye Disease in Pakistan |
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Author(s) |
| Institute/University/Department
Details Department of Biotechnology / University of Karachi, Karachi |
| Session 2008 |
| Subject Biotechnology |
| Number of Pages 175 |
| Keywords (Extracted from title, table of contents and
abstract of thesis) Genetics, Eye, Disease, Pakistan |
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Abstract |
| Download Full Thesis |  10,838 KB |
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| S. No. | Chapter | Title of the Chapters | Page | Size (KB) |
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| 1 | 0 |
CONTENTS
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51 KB | |
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| 2 |
1 |
INTRODUCTION | 1 | 3,457 KB |
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| 3 | 2 | MATERIALS AND METHODS | 46 |
1,207 KB |
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| 4 | 3 | A NOVEL LOCUS FOR LEBER CONGENITAL AMAUROSIS (LCA4) WITH ANTERIOR KERATOCONUS MAPPING TO CHROMOSOME 17p13 | 64 |
1,021 KB |
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| 5 | 4 | A NEW LOCUS FOR AUTOSOMAL RECESSIVE RETINITIS PIGMENTOSA (RP29) MAPPING TO CHROMOSOME 4q32-q34 IN A PAKISTANI FAMILY | 82 |
512 KB |
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| 6 | 5 | REFINEMENT OF THE LOCUS FOR AUTOSOMAL RECESSIVE RETINITIS PIGMENTOSA (RP29) LINKED TO CHROMOSOME 6q IN A FAMILY OF PAKISTANI ORIGIN | 90 |
587 KB |
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| 7 | 6 | SEVERE AUTOSOMAL DOMINANT RECESSIVE RETINITIS PIGMENTOSA CAUSED BY A NOVEL RHODOPSIN MUTATION (Ter349Glu) | 100 |
559 KB |
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| 8 | 7 | RPI PROTEIN TRUNCATING MUTATIONS PREDOMINATE AT THE RPI adRP LOCUS | 112 |
988 KB |
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| 9 | 8 | A LOCUS FOR AUTOSOMAL RECESSIVE CONGENITAL MICROPHTHALMIA MAPS TO CHROMOSOME 14q32 | 128 |
862 KB |
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| 10 | 9 | CONNEXIN 50 MUTATION IN A FAMILY WITH CONGENITAL "ZONULAR NUCLEAR" PULVERULENT CATARACT OF PAKISTANI ORIGIN | 144 |
482 KB |
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| 11 | 10 | GENERAL DISCUSSION | 154 |
354 KB |
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