Titlebook: JIMD Reports, Volume 14; Johannes Zschocke,K. Michael Gibson,Verena Peters Book 2014 SSIEM and Springer-Verlag Berlin Heidelberg 2014 endo

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Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in tdifferent genotypes, all homozygous except one. The analysis highlighted c.962T>C (p.L321P) as the most frequently detected mutation in the group of patients examined and the c.1072G>A (p.V358M) as the most frequent polymorphism. All parents and 50% of the healthy siblings analyzed carried in a hete

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Danon Disease Due to a Novel , Microduplication,r, . sequencing was normal. Deletion/duplication testing by multiplex ligation-dependent probe amplification (MLPA) assay revealed a 1.5kb microduplication containing . exons 4 and 5. RT-PCR studies were consistent with the inclusion of these two duplicated exons in the final spliced transcript, res

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