Chang Gung Memorial Hospital Linkou Medical Center and Chang Gung University College of Medicine

1 ARTICLES PUBLISHED IN JoVE

Medicine

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Hui-Ching Hsu¹, Ming-Feng Liao², Jung-Lung Hsu², Yun-Lin Lee², Long-Sun Ro²

¹Department of Traditional Chinese Medicine, Division of Chinese Acupuncture and Traumatology, Chang Gung Memorial Hospital Linkou Medical Center and Chang Gung University College of Medicine, ²Department of Neurology, Chang Gung Memorial Hospital Linkou Medical Center and Chang Gung University College of Medicine

Here, we present a protocol to confirm the presence of point mutation for the diagnosis of hereditary transthyretin amyloidosis, using Ala97Ser, the most common endemic mutation in Taiwan, as an example.