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Journal of Community Genetics, ISSN 1868-310X, 1/2018, Volume 9, Issue 1, pp. 93 - 99
Transthyretin-related familial amyloid polyneuropathy Val30Met is a fatal progressive disease. It is a rare hereditary amyloidosis, manifesting as a... 
Human Genetics | Gene Function | Public Health | Psychosocial | Gene Therapy | Transthyretin | Epidemiology | Familial amyloid polyneuropathy | Psychiatric | Biomedicine | TTR | Life events | Amyloidosis | Original
Journal Article
Journal Article
Journal Article
Clinical Medicine & Research, ISSN 1539-4182, 09/2008, Volume 6, Issue 2, pp. 80 - 82
Familial amyloid polyneuropathy (FAP) is rare and most commonly caused by the Val30Met mutation of the transthyretin (TTR) gene. Beside polyneuropathy, other... 
DNA-sequencing | Nerve biopsy | Familial amyloid polyneuropathy | Val30Met mutation | TR-gene | Amyloid - genetics | Prealbumin - genetics | Genes, Dominant | Amyloid Neuropathies, Familial - genetics | Humans | Age of Onset | Heterozygote | Male | Aged | Mutation | Amino Acid Substitution | Amyloid Neuropathies, Familial - diagnosis | TTR-gene | Case Report
Journal Article
Amyloid, ISSN 1350-6129, 12/2011, Volume 18, Issue 4, pp. 183 - 190
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2015, Volume 25, Issue 9, pp. 686 - 692
Journal Article
Amyloid, ISSN 1350-6129, 12/2013, Volume 20, Issue 4, pp. 221 - 225
Abstract Objective: To describe 58 subjects with rare TTR mutations, and to compare the different biomarkers between carriers and patients. Methods: TTR gene... 
Amyloidosis | TTR Ser50Arg | TTR Gly47Ala | TTR Ser52Pro | MEDICINE, RESEARCH & EXPERIMENTAL | MEDICINE, GENERAL & INTERNAL | BIOCHEMISTRY & MOLECULAR BIOLOGY | ANTICIPATION | JAPAN | VAL30MET | Prealbumin - genetics | Amyloid Neuropathies, Familial - genetics | Humans | Middle Aged | Adult | Female | Male | Mutation
Journal Article
Medicina (Buenos Aires), ISSN 0025-7680, 08/2008, Volume 68, Issue 4, pp. 273 - 281
La polineuropatía amiloidótica familiar (PAF) es un tipo de amiloidosis hereditaria. Constituye un desorden autosómico dominante caracterizado por el depósito... 
Mutación TTR Val30Met | TTR Val30Met mutation | Transthyretin | Transtiretina | Polineuropatía amiloidótica familiar | Familial amyloidotic polyneuropathy
Journal Article
Amyloid, ISSN 1350-6129, 6/2012, Volume 19, Issue S1, pp. 22 - 24
Journal Article