Mutation screening of Pakistani families with congenital eye disorders

To map the disease loci several Pakistani families suffering from autosomal recessive retinitis pigmentosa with preserved para-arteriolar retinal pigment epithelium and Leber congenital amaurosis (LCA) were analyzed. Analysis revealed close genetic linkage between the disease phenotype of some of th...

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Veröffentlicht in:	Experimental eye research 2003-03, Vol.76 (3), p.343-348
Hauptverfasser:	Khaliq, Shagufta, Abid, Aiysha, Hameed, Abdul, Anwar, Khalid, Mohyuddin, Aisha, Azmat, Zobia, Shami, S.A, Ismail, Muhammad, Mehdi, S.Qasim
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult AIPL1 Biological and medical sciences candidate gene Child Chromosomes, Human, Pair 1 - genetics Chromosomes, Human, Pair 17 - genetics CRB1 DNA Mutational Analysis Female Genotype Heterozygote Humans LCA4 Leber congenital amaurosis Male Medical sciences Miscellaneous Mutation Ophthalmology Optic Atrophy, Hereditary, Leber - genetics Pedigree preserved para-arteriolar retinal pigment epithelium (PPRPE) retinal dystrophies Retinitis Pigmentosa - genetics
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