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Homozygosity Mapping and Targeted Sanger Sequencing Identifies Three Novel CRB1 [Crumbs homologue 1] Mutations in Iranian Retinal Degeneration Families
IBJ-Iranian Biomedical Journal. 2017; 21 (5): 294-302
in English | IMEMR | ID: emr-188486
ABSTRACT

Background:

Inherited retinal diseases [IRDs] are a group of genetic disorders with high degrees of clinical, genetic and allelic heterogeneity. IRDs generally show progressive retinal cell death resulting in gradual vision loss
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Index: IMEMR (Eastern Mediterranean) Main subject: Retinitis Pigmentosa / Chromosome Mapping / Eye Proteins / Leber Congenital Amaurosis / Whole Genome Sequencing / Homozygote / Membrane Proteins / Mutation / Nerve Tissue Proteins Limits: Humans Language: English Journal: Iran. Biomed. J. Year: 2017

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Index: IMEMR (Eastern Mediterranean) Main subject: Retinitis Pigmentosa / Chromosome Mapping / Eye Proteins / Leber Congenital Amaurosis / Whole Genome Sequencing / Homozygote / Membrane Proteins / Mutation / Nerve Tissue Proteins Limits: Humans Language: English Journal: Iran. Biomed. J. Year: 2017