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Hehr A, Seifert B, Hehr U, Bals-Pratsch M Polar Body Diagnosis for Monogenic Disorders in Regensburg Journal für Reproduktionsmedizin und Endokrinologie - Journal of Reproductive Medicine and Endocrinology 2009; 6 (1): 27-31 Volltext (PDF) Summary Praxisrelevanz Übersicht
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Abbildung 1: Assay system Family-specific assay system with multiplex PCR for direct mutation detection of CFTR DF508 and two polymorphic markers located close to the mutation-example of a complete diagnosis for one oocyte: Wash buffer control from first and second PB (first and last raw respectively), results of the first and second PB (second and third raw), from left to right alleles of the DF508 mutation and wild-type (blue), linked polymorphic marker IVS8-M1-FAM (blue) and IVS10-M1-HEX (black), the mutant alleles are labeled with a dotted red line, the wild-type alleles with a dotted green line, respectively. |
Abbildung 1: Assay system
Family-specific assay system with multiplex PCR for direct mutation detection of CFTR DF508 and two polymorphic markers located close to the mutation-example of a complete diagnosis for one oocyte: Wash buffer control from first and second PB (first and last raw respectively), results of the first and second PB (second and third raw), from left to right alleles of the DF508 mutation and wild-type (blue), linked polymorphic marker IVS8-M1-FAM (blue) and IVS10-M1-HEX (black), the mutant alleles are labeled with a dotted red line, the wild-type alleles with a dotted green line, respectively. |