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Results for “"Shamsa Anazi"”

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Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes

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Leen Abu‐Safieh, May Alrashed, Shamsa Anazi, Hisham Alkuraya et al.

Journal: Genome ResearchYear: 2012Citations: 282

Retinal dystrophy (RD) is a heterogeneous group of hereditary diseases caused by loss of photoreceptor function and contributes significantly to the etiology of blindness globally but especially in the industrialized world. The extreme locus and allelic heterogeneity of these disorders poses a major...

Life SciencesBiochemistry, Genetics and Molecular BiologyMolecular BiologyOpen Access
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