Asian hotspot Fabry disease mutation, IVS4 + 919G > A, evidence for founder effect and originated in Asia >800 years ago

2020 ◽  
Vol 129 (2) ◽  
pp. S40
Author(s):  
Chihya Cheng ◽  
Tzu-Hung Chu ◽  
Kung-Hao Liang ◽  
Yung-Hsiu Lu ◽  
TingRong Hsu ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Founder Effect ◽  
Disease Mutation

scholarly journals Founder effect of Fabry disease due to p.F113L mutation: Clinical profile of a late-onset phenotype

2020 ◽  
Vol 129 (2) ◽  
pp. 150-160 ◽  
Author(s):  
Olga Azevedo ◽  
Andreas Gal ◽  
Rui Faria ◽  
Paulo Gaspar ◽  
Gabriel Miltenberger-Miltenyi ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Founder Effect ◽  
Late Onset ◽  
Clinical Profile

Consanguinity and founder effect for Gaucher disease mutation G377S in a population from Tabuleiro do Norte, Northeastern Brazil

2014 ◽  
Vol 88 (4) ◽  
pp. 391-395 ◽  
Author(s):  
R.G. Chaves ◽  
L. da Veiga Pereira ◽  
F.T. de Araújo ◽  
R. Rozenberg ◽  
M.D.F. Carvalho ◽  
...  
Keyword(s):  
Founder Effect ◽  
Gaucher Disease ◽  
Northeastern Brazil ◽  
Disease Mutation

scholarly journals New Fabry disease mutation confirms cardiomyopathy aetiology: a case report

2018 ◽  
Vol 2 (4) ◽  
Author(s):  
Sebastian Militaru ◽  
Adrian Saftoiu ◽  
Berthold Streubel ◽  
Ruxandra Jurcut
Keyword(s):  
Case Report ◽  
Fabry Disease ◽  
Disease Mutation

scholarly journals Fabry disease: Evidence for a regional founder effect of the GLA gene mutation 30delG in Brazilian patients

2014 ◽  
Vol 1 ◽  
pp. 414-421 ◽  
Author(s):  
Dayse Oliveira de Alencar ◽  
Cristina Netto ◽  
Patricia Ashton-Prolla ◽  
Roberto Giugliani ◽  
Ândrea Ribeiro-dos-Santos ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Gene Mutation ◽  
Founder Effect ◽  
Gla Gene

Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidenceof a founder effect

2018 ◽  
Author(s):  
Dorra Ghorbel ◽  
Faten Hadjkacem ◽  
Fatma Mnif ◽  
Fatma Loukil ◽  
Mouna Mnif ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Founder Effect ◽  
Thyroid Dyshormonogenesis

Searching for an additional treatment to slowing the progression of Fabry disease

2019 ◽  
Vol 110 (2) ◽  
Author(s):  
Verdiana Ravarotto ◽  
Gianni Carraro ◽  
Francesca Simioni ◽  
Giovanni Bertoldi ◽  
Elisa Pagnin ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Additional Treatment
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