Add to ORKGA Dutch family with familial amyloidotic polyneuropathy associated with the transthyretin mutation Val71Ala is described. This is the third reported family with this mutation, causing at the protein level an unstable TTR monomer and at the clinical level progressive wasting, polyneuropathy, autonomic dysfunction and vitreous opacities.</p
Familial amyloidotic polyneuropathy (FAP) is an autosomal dominant disorder associated with more tha...
International audienceObjective To compare the natural history of familial transthyretin amyloid pol...
İstanbul Bilim Üniversitesi, Tıp Fakültesi.Transthyretin-related familial amyloid polyneuropathy (TT...
A Dutch family with familial amyloidotic polyneuropathy associated with the transthyretin mutation V...
Familial amyloidotic polyneuropathy is a rare autosomal dominant disease, with clinical symptoms beg...
Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is caused by gain-of-toxic-function ...
Familial amyloid polyneuropathy (FAP) is a rare condition caused by mutations of the transthyretin (...
Transthyretin-associated familial amyloid polyneuropathy (TTR-FAP) is an unusual but life-threatenin...
Familial amyloidotic polyneuropathy type 1 (FAP1, MIM176300) is an autosomal dominant disease caused...
We report on the genetic and molecular characterisation of an Italian family with a late-onset, auto...
PubMed ID: 27238058Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is an autosomal d...
Background. Transthyretin-related familial amyloid polyneuropathy (ATTR-FAP) is a rare, progressive,...
As part of an epidemiological study that aims to characterize chemically the mutation(s) in transthy...
Introduction: Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) typically arises as an...
Two unrelated Italian families affected by hereditary amyloidosis are described. Molecular genetic c...
Familial amyloidotic polyneuropathy (FAP) is an autosomal dominant disorder associated with more tha...
International audienceObjective To compare the natural history of familial transthyretin amyloid pol...
İstanbul Bilim Üniversitesi, Tıp Fakültesi.Transthyretin-related familial amyloid polyneuropathy (TT...
A Dutch family with familial amyloidotic polyneuropathy associated with the transthyretin mutation V...
Familial amyloidotic polyneuropathy is a rare autosomal dominant disease, with clinical symptoms beg...
Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is caused by gain-of-toxic-function ...
Familial amyloid polyneuropathy (FAP) is a rare condition caused by mutations of the transthyretin (...
Transthyretin-associated familial amyloid polyneuropathy (TTR-FAP) is an unusual but life-threatenin...
Familial amyloidotic polyneuropathy type 1 (FAP1, MIM176300) is an autosomal dominant disease caused...
We report on the genetic and molecular characterisation of an Italian family with a late-onset, auto...
PubMed ID: 27238058Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is an autosomal d...
Background. Transthyretin-related familial amyloid polyneuropathy (ATTR-FAP) is a rare, progressive,...
As part of an epidemiological study that aims to characterize chemically the mutation(s) in transthy...
Introduction: Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) typically arises as an...
Two unrelated Italian families affected by hereditary amyloidosis are described. Molecular genetic c...
Familial amyloidotic polyneuropathy (FAP) is an autosomal dominant disorder associated with more tha...
International audienceObjective To compare the natural history of familial transthyretin amyloid pol...
İstanbul Bilim Üniversitesi, Tıp Fakültesi.Transthyretin-related familial amyloid polyneuropathy (TT...