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Keyword Connections - founder mutation Keywords

Connection Type	Connection
Journals	molecular genetics & genomic medicine Radiographics : a review publication of the Radiological Society of North America, Inc journal of molecular neuroscience : mn
Research Groups	No Research Group Connected
Bibliographies	[1] Primary ciliary dyskinesia caused by a large homozygous deletion including exons 1-4 of DRC1 in Japanese patients with recurrent sinopulmonary infection. [2] Extrapulmonary Tuberculosis: Pathophysiology and Imaging Findings. [3] Mutations in GAA Gene in Tunisian Families with Infantile Onset Pompe Disease: Novel Mutation and Structural Modeling Investigations. [4] An ADAMTSL2 founder mutation causes Musladin-Lueke Syndrome, a heritable disorder of beagle dogs, featuring stiff skin and joint contractures. [5] Centronuclear myopathy in Labrador retrievers: a recent founder mutation in the PTPLA gene has rapidly disseminated worldwide. [6] a new slc12a3 founder mutation (p.val647met) in gitelman's syndrome patients of roma ancestry