Frequency of de novo mutations in Japanese patients with Fabry disease

We examined alpha-galactosidase A (GLA) gene mutations in 74 Japanese families with Fabry disease (FD) to determine the frequency of de novo mutations. In 5 of 74 families (6.8%), the probands had no positive family histories and were diagnosed as de novo because their parents had no mutations in GL...

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Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: Kobayashi, Masahisa, Ohashi, Toya, Iizuka, Sayoko, Kaneshiro, Eiko, Higuchi, Takashi, Eto, Yoshikatsu, Ida, Hiroyuki
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2014
Assuntos:
Short Communication
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5121308/
https://ncbi.nlm.nih.gov/pubmed/27896102
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2014.07.001
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