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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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Detaylı Bibliyografya
Yayımlandı:	Mol Genet Metab Rep
Asıl Yazarlar:	Kobayashi, Masahisa, Ohashi, Toya, Iizuka, Sayoko, Kaneshiro, Eiko, Higuchi, Takashi, Eto, Yoshikatsu, Ida, Hiroyuki
Materyal Türü:	Artigo
Dil:	Inglês
Baskı/Yayın Bilgisi:	Elsevier 2014
Konular:	Short Communication
Online Erişim:	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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Frequency of de novo mutations in Japanese patients with Fabry disease

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