Onset in the seventh decade and lack of symptoms in heterozygotes for the TTRMet30 mutation in hereditary amyloid neuropathy—type I (Portuguese, Andrade)
about
A study of 159 Portuguese patients with familial amyloidotic polyneuropathy (FAP) whose parents were both unaffected.A pedigree analysis with minimised ascertainment bias shows anticipation in Met30-transthyretin related familial amyloid polyneuropathyFamilial amyloid polyneuropathy (TTR ala 60) in north west Ireland: a clinical, genetic, and epidemiological study.Transthyretin gene mutations in British and French patients with amyloid neuropathy.Management of asymptomatic gene carriers of transthyretin familial amyloid polyneuropathyOne mutation, two distinct disease variants: unravelling the impact of transthyretin amyloid fibril composition.Overcoming artefact: anticipation in 284 Portuguese kindreds with familial amyloid polyneuropathy (FAP) ATTRV30M.Familial amyloid polyneuropathy with genetic anticipation associated to a gly47glu transthyretin variant in an Italian kindred.Age-dependent cognitive dysfunction in untreated hereditary transthyretin amyloidosis.A Trans-acting Factor May Modify Age at Onset in Familial Amyloid Polyneuropathy ATTRV30M in Portugal.Clinical features of TTR-FAP in Portugal.
P2860
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P2860
Onset in the seventh decade and lack of symptoms in heterozygotes for the TTRMet30 mutation in hereditary amyloid neuropathy—type I (Portuguese, Andrade)
description
article
@en
im Juni 1987 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована в червні 1987
@uk
name
Onset in the seventh decade an ...... y—type I (Portuguese, Andrade)
@en
Onset in the seventh decade an ...... y—type I (Portuguese, Andrade)
@nl
type
label
Onset in the seventh decade an ...... y—type I (Portuguese, Andrade)
@en
Onset in the seventh decade an ...... y—type I (Portuguese, Andrade)
@nl
prefLabel
Onset in the seventh decade an ...... y—type I (Portuguese, Andrade)
@en
Onset in the seventh decade an ...... y—type I (Portuguese, Andrade)
@nl
P356
P1476
Onset in the seventh decade an ...... y-type I (Portuguese, Andrade)
@en
P2093
Saraiva MJ
P304
P356
10.1002/AJMG.1320270213
P577
1987-06-01T00:00:00Z