The severe clinical phenotype for a heterozygous Fabry female patient correlates to the methylation of non-mutated allele associated with chromosome 10q26 deletion syndrome

Hossain, Mohammad Arif; Yanagisawa, Hiroko; Miyajima, Takashi; Wu, Chen; Takamura, Ayumi; Akiyama, Keiko; Itagaki, Rina; Eto, Kaoru; Iwamoto, Takeo; Yokoi, Takayuki; Kurosawa, Kenji; Numabe, Hironao; Eto, Yoshikatsu

期刊名称Molecular Genetics and Metabolism
作者Hossain, Mohammad Arif; Yanagisawa, Hiroko; Miyajima, Takashi; Wu, Chen; Takamura, Ayumi; Akiyama, Keiko; Itagaki, Rina; Eto, Kaoru; Iwamoto, Takeo; Yokoi, Takayuki; Kurosawa, Kenji; Numabe, Hironao; Eto, Yoshikatsu
卷第120卷
期第3期
印刷ISSN1096-7192
文件大小1348.05KB
发表时间2017-03
DOI10.1016/j.ymgme.2017.01.002
页码173-179

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The severe clinical phenotype for a heterozygous Fabry female patient correlates to the methylation of non-mutated allele associated with chromosome 10q26 deletion syndrome