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Locus and gene analyses in five inherited disorders. Edition No. 1

VDM Publishing House, Feb 2010, Pages: 108


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Genetic analyses in five inherited disorders In this study, computer based parametric tests including two and multi point analysis and simulation were applied to evaluate the linkage information obtained by autozygosity mapping from five rare autosomal recessive disorders: multiple joint stiffness (MJS), mental retardation associated with hypertension (MR-HT), hyaline body myopathy (HBM), ataxia-telangiectasia with microcephaly (AT- MCPH) and Seckel syndrome. The borders of gene loci for these disorders were thus better drawn.

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