First Spanish family with familial amyloidotic polyneuropathy associated to TTR Thr49Ile mutation
Author:
Publisher
Informa UK Limited
Subject
Internal Medicine
Link
http://www.tandfonline.com/doi/pdf/10.3109/13506120308995255
Reference6 articles.
1. Identification of a New Transthyretin Variant (Ile49) in Familial Amyloidotic Polyneuropathy Using Electrospray Ionization Mass Spectrometry and Nonisotopic RNase Cleavage Assay
2. TTR exon scanning in peripheral neuropathies
3. Familial amyloidotic polyneuropathy. TTR Met 30 in Majorca (Spain)
4. Transthyretin ALA 71: A new transthyretin variant in a Spanish family with familial amyloidotic polyneuropathy
5. Myelinated sensory and alpha motor axon regeneration in peripheral nerve neuromas
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1. Trasplante hepático como tratamiento de la polineuropatía amiloidótica familiar en pacientes mayores de 60 años;Medicina Clínica;2015-05
2. Liver transplantation as treatment of familial amyloid polyneuropathy in patients older than 60 years;Medicina Clínica (English Edition);2015-05
3. Vitreous surgery impact in glaucoma development in liver transplanted familial amyloidosis ATTR V30M Portuguese patients;Amyloid;2012-08-03
4. Transthyretin is up-regulated by sex hormones in mice liver;Molecular and Cellular Biochemistry;2008-06-22
5. Familial amyloidosis in a large Spanish kindred resulting from a D38V mutation in the transthyretin gene;European Journal of Clinical Investigation;2007-08
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