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Identification of Chromosome Abnormalities in Subtelomeric Regions Using Multiplex Ligation Dependent Probe Amplification (MLPA) Technique in 100 Iranian Patients With Idiopathic Mental Retardation
Ligation Mental Retardation Hypersomnolence Idiopathic
2015/10/9
Background: Mental retardation/Developmental delay (MR/DD) is present in 1 - 3% of the general population (1, 2). MR is defined as a significant impairment of both cognitive (IQ < 70) and social adapt...
Identification of a Novel Frameshift Mutation [Codon 3 (+T)] in a Turkish Patient with b-Thalassemia Intermedia
b-thalassemia b-globin gene insertion frameshift mutation DNA sequencing
2009/6/22
b-Thalassemia, one of the most widespread genetic diseases in the world, is an autosomal recessive disease generally caused by point mutations in the b-globin gene that is located as a cluster on the ...