A pedigree analysis with minimised ascertainment bias shows anticipation in Met30-transthyretin related familial amyloid polyneuropathy
about
Recommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosisGuideline of transthyretin-related hereditary amyloidosis for clinicians.Transmission of amyloidosis in offspring of mice with AApoAII amyloidosis.Genetic epidemiology of familial amyloid polyneuropathy in the Balearic Islands (Spain).Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population.Diagnosis of familial amyloid polyneuropathy: wide-ranged clinicopathological features.Hereditary ATTR amyloidosis: a single-institution experience with 266 patients.Description of transthyretin S50A, S52P and G47A mutations in familial amyloidosis polyneuropathy.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.Electrophysiological features of familial amyloid polyneuropathy in endemic area.Diagnosis and management of transthyretin familial amyloid polyneuropathy in Japan: red-flag symptom clusters and treatment algorithm.Late-onset familial amyloid polyneuropathy type I (transthyretin Met30-associated familial amyloid polyneuropathy) unrelated to endemic focus in Japan. Clinicopathological and genetic features.Severe amyloid deposition in mammary glands of familial amyloid polyneuropathy patients.Epidemiological, clinical and genetic study of familial amyloidotic polyneuropathy in Cyprus.Extremely early onset hereditary ATTR amyloidosis with G47R (p.G67R) mutation.Amyloidosis due to TTR mutations in Mexico with 4 distincts genotypes in the index cases.Mutation and transcription analysis of transthyretin gene in Italian families with hereditary amyloidosis: a putative novel ‘hot spot’ in codon 47A novel variant of transthyretin (Glu89Lys) associated with familial amyloidotic polyneuropathy
P2860
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P2860
A pedigree analysis with minimised ascertainment bias shows anticipation in Met30-transthyretin related familial amyloid polyneuropathy
description
1998 nî lūn-bûn
@nan
1998 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
A pedigree analysis with minim ...... amilial amyloid polyneuropathy
@ast
A pedigree analysis with minim ...... amilial amyloid polyneuropathy
@en
type
label
A pedigree analysis with minim ...... amilial amyloid polyneuropathy
@ast
A pedigree analysis with minim ...... amilial amyloid polyneuropathy
@en
prefLabel
A pedigree analysis with minim ...... amilial amyloid polyneuropathy
@ast
A pedigree analysis with minim ...... amilial amyloid polyneuropathy
@en
P2093
P2860
P356
P1476
A pedigree analysis with minim ...... amilial amyloid polyneuropathy
@en
P2093
P2860
P356
10.1136/JMG.35.1.23
P407
P577
1998-01-01T00:00:00Z