Sökning: "LRS1"

Hittade 1 avhandling innehållade ordet LRS1.

1. 1. Localization of five human genes by clinical and molecular genetic methods

   Författare :Mihailo Vujic; Göteborgs universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Larsen syndrome; LRS1; Multiple hereditary exostoses; EXT2; Best macular dystrophy; VMD2; Noonan syndrome; NS3; Tripeptidyl peptidase-2; TPP2;

   Sammanfattning : Four of the research projects reported in this thesis start from the gene effects observed in clinical practice. Finding a disease causing gene is challenging, exciting and beneficial for the patient, the family and for the society. LÄS MER