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Title of Thesis

Genetics of Eye Disease in Pakistan

Author(s)

Abdul Hameed

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

Abstract
Available

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10,838 KB
S. No. Chapter Title of the Chapters Page Size (KB)
1 0 CONTENTS

 

 
51 KB
2

1

INTRODUCTION 1
3,457 KB
3 2 MATERIALS AND METHODS 46
1,207 KB
4 3 A NOVEL LOCUS FOR LEBER CONGENITAL AMAUROSIS (LCA4) WITH ANTERIOR KERATOCONUS MAPPING TO CHROMOSOME 17p13 64
1,021 KB
5 4 A NEW LOCUS FOR AUTOSOMAL RECESSIVE RETINITIS PIGMENTOSA (RP29) MAPPING TO CHROMOSOME 4q32-q34 IN A PAKISTANI FAMILY 82
512 KB
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
7 6 SEVERE AUTOSOMAL DOMINANT RECESSIVE RETINITIS PIGMENTOSA CAUSED BY A NOVEL RHODOPSIN MUTATION (Ter349Glu) 100
559 KB
8 7 RPI PROTEIN TRUNCATING MUTATIONS PREDOMINATE AT THE RPI adRP LOCUS 112
988 KB
9 8 A LOCUS FOR AUTOSOMAL RECESSIVE CONGENITAL MICROPHTHALMIA MAPS TO CHROMOSOME 14q32 128
862 KB
10 9 CONNEXIN 50 MUTATION IN A FAMILY WITH CONGENITAL "ZONULAR NUCLEAR" PULVERULENT CATARACT OF PAKISTANI ORIGIN 144
482 KB
11 10 GENERAL DISCUSSION 154
354 KB