New transthyretin mutation V28M in a Portuguese kindred with amyloid polyneuropathy

Muscle and Nerve

Volumn 23, Issue 7, 2000, Pages 1016-1021

  De Carvalho, Mamede ^a,b   Moreira, Paulo ^c   Evangelista, Teresinha ^a   Ducla Soares, José Luis ^a   Bento, Mariana ^d   Fernandes, Rui ^c   Saraiva, Maria João ^c  

^a HOSPITAL DE SANTA MARIA   (Portugal)

^b Centro de Estudos Egas Moniz   (Portugal)

^c UNIVERSITY OF PORTO   (Portugal)

^d HOSPITAL DE SÃO JOSÉ   (Portugal)

Author keywords

Electromyography; Familial amyloidotic polyneuropathy; Transthyretin mutation

Indexed keywords

AMYLOID; METHIONINE; PREALBUMIN;

ADULT; AMINO ACID SUBSTITUTION; AMYLOID NEUROPATHY; ARTICLE; AUTONOMIC DYSFUNCTION; CASE REPORT; FAMILY HISTORY; GENE MUTATION; HUMAN; MALE; MASS SPECTROMETRY; NERVE BIOPSY; ONSET AGE; PEPTIDE MAPPING; PORTUGAL; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADULT; AMYLOID NEUROPATHIES; AUTONOMIC NERVOUS SYSTEM; AXONS; BLOOD PRESSURE; ELECTROMYOGRAPHY; EXONS; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PORTUGAL; PREALBUMIN; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SPECTROMETRY, MASS, MATRIX-ASSISTED LASER DESORPTION-IONIZATION; SURAL NERVE; SYMPATHETIC NERVOUS SYSTEM;

EID: 0033933031     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/1097-4598(200007)23:7<1016::AID-MUS3>3.0.CO;2-W     Document Type: Article

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