Identification of a novel nonsense mutation in α-galactosidase A that causes Fabry disease in a Chinese family

Yushi Penga Department of Transplantation, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, ChinaView further author information

Meize Panb Department of Nephrology, Peking University Shenzhen Hospital, Shenzhen, Guangdong, ChinaView further author information

Yuchen Wanga Department of Transplantation, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, China

https://orcid.org/0000-0003-3253-5117 View further author information

Zongrui Shenc Department of Medical Genetics, Experimental Education/Administration Center, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, ChinaView further author information

Jian Xua Department of Transplantation, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, ChinaView further author information

Fu Xiongc Department of Medical Genetics, Experimental Education/Administration Center, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, China;d Guangdong Provincial Key Laboratory of Single Cell Technology and Application, Guangzhou, Guangdong, China;e Department of Fetal Medicine and Prenatal Diagnosis, Zhujiang Hospital, Southern Medical University, Guangzhou, Guangdong, ChinaView further author information

Hongbo Xiaob Department of Nephrology, Peking University Shenzhen Hospital, Shenzhen, Guangdong, ChinaCorrespondence[email protected]
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Yun Miaoa Department of Transplantation, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, ChinaCorrespondence[email protected]
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Identification of a novel nonsense mutation in α-galactosidase A that causes Fabry disease in a Chinese family

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Identification of a novel nonsense mutation in α-galactosidase A that causes Fabry disease in a Chinese family

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