Norsk studie om Marfans syndrom
Search for correlations between FBN1 genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome.
Am J Med Genet A 2007 Sep;143(17):1968-77.
Fatigue, cognitive functioning and psychological distress in Marfan syndrome, a pilot study.
Psychol Health Med 2007 May;12(3):305-13.
Rapid and efficient FBN1 mutation detection using automated sample preparation and direct sequencing as the primary strategy.
Genet Test 2006;10(4):258-64.