Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families-Reference-Cited by-同舟云学术

Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families

Published:2005-01-10 Issue:2 Volume:25 Page:135-141
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Chen Suqin¹,Song Chun²,Guo Hui¹,Xu Pingyi³,Huang Weijun¹,Zhou Yan⁴⁵⁶,Sun Jiandong⁷,Li Cai‐Xia⁸,Du Yong⁹,Li Xunhua³,Liu Zhuolin³,Geng Deqin¹⁰,Maxwell Patrick H.¹¹,Zhang Cheng³,Wang Yiming¹

Affiliation:

1. Department of Medical Genetics, Zhongshan Medical College, Sun Yat‐Sen University, Guangzhou, People's Republic of China

2. Laboratory for Cellular Transplantation, First Affiliated Hospital, Harbin Medical University, Harbin, PR China

3. Department of Neurology, First Affiliated Hospital, Zhongshan Medical College, Sun Yat‐Sen University, Guangzhou, PR China

4. Hangzhou Genomics Institute, Hangzhou, PR China

5. James D. Watson Institute of Genome Sciences, Zhejiang University, Hangzhou, PR China

6. Key Laboratory of Bioinformatics of Zhejiang Province, Hangzhou, PR China

7. Department of Physics, Fudan University, Shanghai, PR China

8. Department of Medical Statistics, Zhongshan Medical College, Sun Yat‐Sen University, Guangzhou, PR China

9. Department of Medicine, First Affiliated Hospital, Zhongshan Medical College, Sun Yat‐Sen Univerisity, Guangzhou, PR China

10. Department of Neurology, Affiliated Hospital of Xuzhou Medical College, Xuzhou, PR China

11. Department of Medicine, Hammersmith Hospital, Imperial College, London, United Kingdom

Funder

Chinese 863 HiTech Project

Guangdong Provincial Natural Science Foundation

China Medical Board of New York

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.20126

Reference35 articles.

1. Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleus

2. Is the Transportation Highway the Right Road for Hereditary Spastic Paraplegia?

3. Prediction of transmembrane alpha-helices in prokaryotic membrane proteins: the dense alignment surface method

4. Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

5. The phenotype of “pure” autosomal dominant spastic paraplegia

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